chr4:1806668:A>G Detail (hg38) (FGFR3)

Information

Genome

Assembly Position
hg19 chr4:1,808,395-1,808,395 View the variant detail on this assembly version.
hg38 chr4:1,806,668-1,806,668

HGVS

Type Transcript Protein
RefSeq NM_001163213.1:c.2159A>G NP_001156685.1:p.Asn720Ser
NM_022965.3:c.2141A>G NP_075254.1:p.Asn714Ser
NM_000142.4:c.2153A>G NP_000133.1:p.Asn718Ser
Summary

MGeND

Clinical significance Likely benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.002
ToMMo:0.003
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 134934 OMIM
HGNC 3690 HGNC
Ensembl ENSG00000068078 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15810242 TogoVar
COSMIC COSM3337775 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely benign other germline MGS000078
(TMGS000157) 		Yoichi Matsubara National Center for Child Health and Development
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2016-08-22 criteria provided, single submitter Inborn genetic diseases germline Detail
Uncertain significance 2018-10-31 criteria provided, single submitter hypochondroplasia,cervical cancer,achondroplasia,Levy-Hollister syndrome,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia, type 2,Carcinoma of colon,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,Malignant tumor of testis,Thanatophoric dysplasia type 1 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter hypochondroplasia,cervical cancer,achondroplasia,Levy-Hollister syndrome,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia, type 2,Carcinoma of colon,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,Malignant tumor of testis,Thanatophoric dysplasia type 1 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter hypochondroplasia,cervical cancer,achondroplasia,Levy-Hollister syndrome,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia, type 2,Carcinoma of colon,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,Malignant tumor of testis,Thanatophoric dysplasia type 1 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter hypochondroplasia,cervical cancer,achondroplasia,Levy-Hollister syndrome,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia, type 2,Carcinoma of colon,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,Malignant tumor of testis,Thanatophoric dysplasia type 1 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter hypochondroplasia,cervical cancer,achondroplasia,Levy-Hollister syndrome,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia, type 2,Carcinoma of colon,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,Malignant tumor of testis,Thanatophoric dysplasia type 1 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter hypochondroplasia,cervical cancer,achondroplasia,Levy-Hollister syndrome,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia, type 2,Carcinoma of colon,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,Malignant tumor of testis,Thanatophoric dysplasia type 1 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter hypochondroplasia,cervical cancer,achondroplasia,Levy-Hollister syndrome,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia, type 2,Carcinoma of colon,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,Malignant tumor of testis,Thanatophoric dysplasia type 1 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter hypochondroplasia,cervical cancer,achondroplasia,Levy-Hollister syndrome,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia, type 2,Carcinoma of colon,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,Malignant tumor of testis,Thanatophoric dysplasia type 1 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter hypochondroplasia,cervical cancer,achondroplasia,Levy-Hollister syndrome,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia, type 2,Carcinoma of colon,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,Malignant tumor of testis,Thanatophoric dysplasia type 1 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter hypochondroplasia,cervical cancer,achondroplasia,Levy-Hollister syndrome,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia, type 2,Carcinoma of colon,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,Malignant tumor of testis,Thanatophoric dysplasia type 1 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter hypochondroplasia,cervical cancer,achondroplasia,Levy-Hollister syndrome,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia, type 2,Carcinoma of colon,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,Malignant tumor of testis,Thanatophoric dysplasia type 1 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter hypochondroplasia,cervical cancer,achondroplasia,Levy-Hollister syndrome,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia, type 2,Carcinoma of colon,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,Malignant tumor of testis,Thanatophoric dysplasia type 1 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter hypochondroplasia,cervical cancer,achondroplasia,Levy-Hollister syndrome,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia, type 2,Carcinoma of colon,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,Malignant tumor of testis,Thanatophoric dysplasia type 1 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter hypochondroplasia,cervical cancer,achondroplasia,Levy-Hollister syndrome,Malignant tumor of urinary bladder,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Muenke Syndrome,Thanatophoric dysplasia, type 2,Carcinoma of colon,epidermal nevus,camptodactyly-tall stature-scoliosis-hearing loss syndrome,Crouzon syndrome-acanthosis nigricans syndrome,Malignant tumor of testis,Thanatophoric dysplasia type 1 unknown Detail
Conflicting interpretations of pathogenicity 2024-01-13 criteria provided, conflicting interpretations not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) AND Inborn genetic diseases ClinVar Detail
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) AND multiple conditions ClinVar Detail
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) AND not provided ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs139773438 dbSNP
Genome
hg38
Position
chr4:1,806,668-1,806,668
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1180
Mean of sample read depth (HGVD)
35.73
Standard deviation of sample read depth (HGVD)
17.20
Number of reference allele (HGVD)
2356
Number of alternative allele (HGVD)
4
Allele Frequency (HGVD)
0.001694915254237288
Gene Symbol (HGVD)
FGFR3
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs139773438
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0026
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
43
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8566
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1674060238150829E-4
Chromosome Counts in All Race (ExAC)
118078
Allele Counts in All Race (ExAC)
9
Heterozygous Counts in All Race (ExAC)
9
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.622080319788614E-5
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