NM_002386.4(MC1R):c.515G>T (p.Ser172Ile) AND Malignant Melanoma Susceptibility

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 14, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000354729.5

Allele description [Variation Report for NM_002386.4(MC1R):c.515G>T (p.Ser172Ile)]

NM_002386.4(MC1R):c.515G>T (p.Ser172Ile)

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.515G>T (p.Ser172Ile)

HGVS:

NC_000016.10:g.89919773G>T
NG_012026.1:g.6895G>T
NG_027810.1:g.2765G>T
NM_002386.4:c.515G>TMANE SELECT
NP_002377.4:p.Ser172Ile
NP_002377.4:p.Ser172Ile
NC_000016.9:g.89986181G>T
NM_002386.3:c.515G>T

Protein change:

S172I

Links:

dbSNP: rs376670171

NCBI 1000 Genomes Browser:

rs376670171

Molecular consequence:

NM_002386.4:c.515G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Malignant Melanoma Susceptibility
Identifiers:: MedGen: C3836884

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000399962	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16809487, 16982779, 19799798 ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000399962

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

MC1R germline variants confer risk for BRAF-mutant melanoma.

Landi MT, Bauer J, Pfeiffer RM, Elder DE, Hulley B, Minghetti P, Calista D, Kanetsky PA, Pinkel D, Bastian BC.

Science. 2006 Jul 28;313(5786):521-2. Epub 2006 Jun 29.

PubMed [citation]

PMID:: 16809487

Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma.

Kanetsky PA, Rebbeck TR, Hummer AJ, Panossian S, Armstrong BK, Kricker A, Marrett LD, Millikan RC, Gruber SB, Culver HA, Zanetti R, Gallagher RP, Dwyer T, Busam K, From L, Mujumdar U, Wilcox H, Begg CB, Berwick M.

Cancer Res. 2006 Sep 15;66(18):9330-7.

PubMed [citation]

PMID:: 16982779

See all PubMed Citations (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000399962.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

Last Updated: May 16, 2025

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