chr17:31229905:A>G Detail (hg38) (NF1)

Information

Genome

Assembly Position
hg19 chr17:29,556,923-29,556,923 View the variant detail on this assembly version.
hg38 chr17:31,229,905-31,229,905

HGVS

Type Transcript Protein
RefSeq NM_000267.3:c.2921A>G NP_000258.1:p.Asn974Ser
NM_001042492.2:c.2921A>G NP_001035957.1:p.Asn974Ser
Ensemble ENST00000696138.1:c.2966A>G ENST00000696138.1:p.Asn989Ser
Summary

MGeND

Clinical significance Uncertain significance
Variant entry 4
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.002
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 613113 OMIM
HGNC 7765 HGNC
Ensembl ENSG00000196712 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv57491646 TogoVar
COSMIC COSM6444487 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance 2022/05/12 breast, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Uncertain significance 2022/05/12 colon, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Uncertain significance 2022/09/20 breast, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Uncertain significance 2022/05/12 meninges, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2021-09-18 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Likely benign 2020-09-03 criteria provided, single submitter not provided germline Detail
Benign 2024-01-30 criteria provided, single submitter Neurofibromatosis, type 1 germline Detail
Likely benign 2017-06-08 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely benign 2020-03-09 criteria provided, single submitter NF1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001042492.3(NF1):c.2921A>G (p.Asn974Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001042492.3(NF1):c.2921A>G (p.Asn974Ser) AND not provided ClinVar Detail
NM_001042492.3(NF1):c.2921A>G (p.Asn974Ser) AND Neurofibromatosis, type 1 ClinVar Detail
NM_001042492.3(NF1):c.2921A>G (p.Asn974Ser) AND multiple conditions ClinVar Detail
NM_001042492.3(NF1):c.2921A>G (p.Asn974Ser) AND NF1-related disorder 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
rs557875547 dbSNP
Genome
hg38
Position
chr17:31,229,905-31,229,905
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs557875547
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
33
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3121387283236994E-4
Chromosome Counts in All Race (ExAC)
120726
Allele Counts in All Race (ExAC)
28
Heterozygous Counts in All Race (ExAC)
26
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
2.3193015589019763E-4
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