chr14:22843345:C>G Detail (hg38) (MMP14)

Information

Genome

Assembly Position
hg19 chr14:23,312,554-23,312,554 View the variant detail on this assembly version.
hg38 chr14:22,843,345-22,843,345

HGVS

Type Transcript Protein
RefSeq NM_004995.3:c.777C>G NP_004986.1:p.Pro259=
Ensemble ENST00000311852.11:c.777C>G ENST00000311852.11:p.Pro259=
ENST00000548162.2:c.777C>G ENST00000548162.2:p.Pro259=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.107
ToMMo:0.113
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.128

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 600754 OMIM
HGNC 7160 HGNC
Ensembl ENSG00000157227 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv50114569 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2019-11-16 criteria provided, single submitter MMP14-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004995.4(MMP14):c.777C>G (p.Pro259=) AND not provided ClinVar Detail
NM_004995.4(MMP14):c.777C>G (p.Pro259=) AND MMP14-related disorder ClinVar Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET 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
rs2236302 dbSNP
Genome
hg38
Position
chr14:22,843,345-22,843,345
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
110.06
Standard deviation of sample read depth (HGVD)
55.27
Number of reference allele (HGVD)
2161
Number of alternative allele (HGVD)
259
Allele Frequency (HGVD)
0.10702479338842975
Gene Symbol (HGVD)
MMP14
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))
rs2236302
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.113
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1894
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8620
East Asian Allele Counts (ExAC)
1100
East Asian Heterozygous Counts (ExAC)
978
East Asian Homozygous Counts (ExAC)
61
East Asian Allele Frequency (ExAC)
0.12761020881670534
Chromosome Counts in All Race (ExAC)
121228
Allele Counts in All Race (ExAC)
15074
Heterozygous Counts in All Race (ExAC)
12742
Homozygous Counts in All Race (ExAC)
1166
Allele Frequency in All Race (ExAC)
0.124344210908371
Genome browser