NM_002386.4(MC1R):c.652G>A (p.Ala218Thr) AND Melanoma, cutaneous malignant, susceptibility to, 5

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Jan 18, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000647344.13

Allele description

NM_002386.4(MC1R):c.652G>A (p.Ala218Thr)

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.652G>A (p.Ala218Thr)

HGVS:

NC_000016.10:g.89919910G>A
NG_012026.1:g.7032G>A
NG_027810.1:g.2902G>A
NM_002386.4:c.652G>AMANE SELECT
NP_002377.4:p.Ala218Thr
NP_002377.4:p.Ala218Thr
NC_000016.9:g.89986318G>A
NM_002386.3:c.652G>A

Protein change:

A218T

Links:

dbSNP: rs200965363

NCBI 1000 Genomes Browser:

rs200965363

Molecular consequence:

NM_002386.4:c.652G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Melanoma, cutaneous malignant, susceptibility to, 5
Synonyms:: Cutaneous malignant melanoma 5
Identifiers:: MONDO: MONDO:0013133; MedGen: C2751295; Orphanet: 618; OMIM: 613099

Recent activity

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myb family transcription factor APL-like [Cucurbita moschata]
myb family transcription factor APL-like [Cucurbita moschata]
gi|1279781893|ref|XP_022943792.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000399969	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 16809487, 17316231, 20876876, 19585506, 17279550, 18067130, 18803811 Citation Link,
SCV000769134	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 18, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000399969

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link,

SCV000769134

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 18, 2024)

germline

clinical testing

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

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

Determination of phenotype associated SNPs in the MC1R gene.

Branicki W, Brudnik U, Kupiec T, Wolañska-Nowak P, Wojas-Pelc A.

J Forensic Sci. 2007 Mar;52(2):349-54.

PubMed [citation]

PMID:: 17316231

See all PubMed Citations (8)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000399969.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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

From Invitae, SCV000769134.8

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

#	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: Feb 28, 2024

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