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NM_002386.4(MC1R):c.652G>A (p.Ala218Thr) AND Melanoma, cutaneous malignant, susceptibility to, 1

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001824733.1

Allele description [Variation Report for NM_002386.4(MC1R):c.652G>A (p.Ala218Thr)]

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, 1 (CMM1)
Synonyms:
Cutaneous malignant melanoma 1; MELANOMA, MALIGNANT; DYSPLASTIC NEVUS SYNDROME, HEREDITARY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007963; MedGen: C1835047; Orphanet: 618; OMIM: 155600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002075135GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV002075135.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 05-03-2021 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Sep 29, 2024