NM_002386.4(MC1R):c.951dup (p.Ter318ValextTer?) AND Melanoma, cutaneous malignant, susceptibility to, 5

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 14, 2022
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:: RCV003115732.5

Allele description [Variation Report for NM_002386.4(MC1R):c.951dup (p.Ter318ValextTer?)]

NM_002386.4(MC1R):c.951dup (p.Ter318ValextTer?)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

16q24.3

Genomic location:

Preferred name:

NM_002386.4(MC1R):c.951dup (p.Ter318ValextTer?)

HGVS:

NC_000016.10:g.89920209dup
NG_012026.1:g.7331dup
NG_027810.1:g.3201dup
NG_134987.1:g.909dup
NG_134988.1:g.25dup
NM_002386.4:c.951dupMANE SELECT
NP_002377.4:p.Ter318ValextTer?
NC_000016.9:g.89986615_89986616insG
NC_000016.9:g.89986617dup

Molecular consequence:

NM_002386.4:c.951dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002386.4:c.951dup - stop lost - [Sequence Ontology: SO:0001578]

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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UNVERIFIED: Homo sapiens clone 5.35a cold-inducible RNA-binding protein-like (CI...
UNVERIFIED: Homo sapiens clone 5.35a cold-inducible RNA-binding protein-like (CIRBP) mRNA, complete sequence
gi|2504373483|gb|OP242350.1|

Nucleotide
rho guanine nucleotide exchange factor 26 isoform 1 [Homo sapiens]
rho guanine nucleotide exchange factor 26 isoform 1 [Homo sapiens]
gi|354459392|ref|NP_001238891.1|

Protein
Hypoplastic cervical vertebrae
Hypoplastic cervical vertebrae

MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003788337	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 14, 2022)	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

SCV003788337

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 14, 2022)

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003788337.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with MC1R-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the MC1R mRNA. It is expected to extend the length of the MC1R protein by 16 additional amino acid residues.

#	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: Sep 29, 2024

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