NM_002386.4(MC1R):c.475C>A (p.Pro159Thr) AND UV-induced skin damage, susceptibility to

Germline classification:: risk factor (1 submission)
Last evaluated:: Apr 1, 2006
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000015391.3

Allele description [Variation Report for NM_002386.4(MC1R):c.475C>A (p.Pro159Thr)]

NM_002386.4(MC1R):c.475C>A (p.Pro159Thr)

Gene:

MC1R:melanocortin 1 receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

Preferred name:

NM_002386.4(MC1R):c.475C>A (p.Pro159Thr)

HGVS:

NC_000016.10:g.89919733C>A
NG_012026.1:g.6855C>A
NG_027810.1:g.2725C>A
NM_002386.4:c.475C>AMANE SELECT
NP_002377.4:p.Pro159Thr
NC_000016.9:g.89986141C>A
Q01726:p.Pro159Thr

Protein change:

P159T; PRO159THR

Links:

UniProtKB: Q01726#VAR_042660; OMIM: 155555.0009; dbSNP: rs104894523

NCBI 1000 Genomes Browser:

rs104894523

Molecular consequence:

NM_002386.4:c.475C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: UV-induced skin damage, susceptibility to
Identifiers:: MONDO: MONDO:0800410; MedGen: C2678403

Recent activity

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LOC582820 [Strongylocentrotus purpuratus]
LOC582820 [Strongylocentrotus purpuratus]
Gene ID:582820

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000035652	OMIM	no assertion criteria provided	risk factor (Apr 1, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000035652

OMIM

no assertion criteria provided

risk factor
(Apr 1, 2006)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians.

Nakayama K, Soemantri A, Jin F, Dashnyam B, Ohtsuka R, Duanchang P, Isa MN, Settheetham-Ishida W, Harihara S, Ishida T.

Hum Genet. 2006 Apr;119(3):322-30. Epub 2006 Feb 4.

PubMed [citation]

PMID:: 16463023

Details of each submission

From OMIM, SCV000035652.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 1 of 1,990 alleles from 30 Asian and Oceanian populations, Nakayama et al. (2006) identified a 475C-A transversion in the MC1R gene, resulting in a pro159-to-thr (P159T) substitution in the second intracellular loop region. The allele was found in the East Asian Manchu population. In vitro functional expression studies showed that the P159T variant had significantly decreased activity (266300).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 15, 2023

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