chr16:89919436:G>T Detail (hg38) (MC1R)

Information

Genome

Assembly Position
hg19 chr16:89,985,844-89,985,844 View the variant detail on this assembly version.
hg38 chr16:89,919,436-89,919,436

HGVS

Type Transcript Protein
RefSeq NM_002386.3:c.178G>T NP_002377.4:p.Val60Leu
Ensemble ENST00000555147.2:c.178G>T ENST00000555147.2:p.Val60Leu
ENST00000555427.1:c.178G>T ENST00000555427.1:p.Val60Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 155555 OMIM
HGNC 6929 HGNC
Ensembl ENSG00000258839 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv397385628 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
association 1997-10-01 no assertion criteria provided Skin/hair/eye pigmentation 2, blond hair/fair skin germline Detail
Benign 2016-02-09 criteria provided, single submitter not specified germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts Melanoma, cutaneous malignant, susceptibility to, 5 germline Detail
Benign no assertion criteria provided germline Detail
Benign 2018-06-22 criteria provided, single submitter not provided germline Detail
Likely benign 2022-02-21 criteria provided, single submitter Skin/hair/eye pigmentation, variation in, 2,Tyrosinase-positive oculocutaneous albinism,Melanoma, cutaneous malignant, susceptibility to, 5,Increased analgesia from kappa-opioid receptor agonist, female-specific unknown Detail
Likely benign 2022-02-21 criteria provided, single submitter Skin/hair/eye pigmentation, variation in, 2,Tyrosinase-positive oculocutaneous albinism,Melanoma, cutaneous malignant, susceptibility to, 5,Increased analgesia from kappa-opioid receptor agonist, female-specific unknown Detail
Likely benign 2022-02-21 criteria provided, single submitter Skin/hair/eye pigmentation, variation in, 2,Tyrosinase-positive oculocutaneous albinism,Melanoma, cutaneous malignant, susceptibility to, 5,Increased analgesia from kappa-opioid receptor agonist, female-specific unknown Detail
Likely benign 2022-02-21 criteria provided, single submitter Skin/hair/eye pigmentation, variation in, 2,Tyrosinase-positive oculocutaneous albinism,Melanoma, cutaneous malignant, susceptibility to, 5,Increased analgesia from kappa-opioid receptor agonist, female-specific unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.284 melanoma Simultaneous purifying selection on the ancestral MC1R allele and positive selec... BeFree 24045876 Detail
<0.001 melanoma We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; N... BeFree 24170137 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) AND Skin/hair/eye pigmentation 2, blond hair/fair skin ClinVar Detail
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) AND not specified ClinVar Detail
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) AND Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Detail
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) AND Malignant tumor of breast ClinVar Detail
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) AND not provided ClinVar Detail
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) AND multiple conditions ClinVar Detail
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) AND multiple conditions ClinVar Detail
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) AND multiple conditions ClinVar Detail
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) AND multiple conditions ClinVar Detail
Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma... DisGeNET Detail
We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and... 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
rs1805005 dbSNP
Genome
hg38
Position
chr16:89,919,436-89,919,436
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Allele Counts in All Race (ExAC)
9974
East Asian Chromosome Counts (ExAC)
8594
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1636025133814289E-4
Chromosome Counts in All Race (ExAC)
119870
Heterozygous Counts in All Race (ExAC)
8642
Homozygous Counts in All Race (ExAC)
666
Allele Frequency in All Race (ExAC)
0.08320680737465588
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