NM_002386.3(MC1R):c.247T>C (p.Ser83Pro) AND Cutaneous malignant melanoma 5

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 19, 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:: RCV000456463.1

Allele description

NM_002386.3(MC1R):c.247T>C (p.Ser83Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

Preferred name:

NM_002386.3(MC1R):c.247T>C (p.Ser83Pro)

HGVS:

NC_000016.10:g.89919505T>C
NG_012026.1:g.6627T>C
NM_002386.3:c.247T>C
NP_002377.4:p.Ser83Pro
NC_000016.9:g.89985913T>C

Protein change:

S83P

Links:

dbSNP: rs34474212

GMAF:

0.0002(C), 34474212

NCBI 1000 Genomes Browser:

rs34474212

Allele Frequency:

0.00077(C)

Molecular consequence:

NM_002386.3:c.247T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cutaneous malignant melanoma 5 (CMM5)
Synonyms:: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
Identifiers:: MedGen: C2751295; Orphanet: 618; OMIM: 613099

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000556940	Invitae,	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 19, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000556940

Invitae,

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Dec 19, 2016)

germline

clinical testing

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

Details of each submission

From Invitae,, SCV000556940.1

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

#	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: Dec 19, 2017

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