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NM_001354604.2(MITF):c.654G>A (p.Ala218=) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 24, 2021
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:
RCV001571286.3

Allele description [Variation Report for NM_001354604.2(MITF):c.654G>A (p.Ala218=)]

NM_001354604.2(MITF):c.654G>A (p.Ala218=)

Gene:
MITF:melanocyte inducing transcription factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p13
Genomic location:
Preferred name:
NM_001354604.2(MITF):c.654G>A (p.Ala218=)
HGVS:
  • NC_000003.12:g.69939169G>A
  • NG_011631.1:g.204688G>A
  • NM_000248.4:c.333G>A
  • NM_001184967.2:c.498G>A
  • NM_001354604.2:c.654G>AMANE SELECT
  • NM_001354605.2:c.651G>A
  • NM_001354606.2:c.651G>A
  • NM_001354607.2:c.603G>A
  • NM_001354608.2:c.498G>A
  • NM_006722.3:c.651G>A
  • NM_198158.3:c.333G>A
  • NM_198159.3:c.654G>A
  • NM_198177.3:c.606G>A
  • NM_198178.3:c.165G>A
  • NP_000239.1:p.Ala111=
  • NP_001171896.1:p.Ala166=
  • NP_001341533.1:p.Ala218=
  • NP_001341534.1:p.Ala217=
  • NP_001341535.1:p.Ala217=
  • NP_001341536.1:p.Ala201=
  • NP_001341537.1:p.Ala166=
  • NP_006713.1:p.Ala217=
  • NP_937801.1:p.Ala111=
  • NP_937802.1:p.Ala218=
  • NP_937820.1:p.Ala202=
  • NP_937821.2:p.Ala55=
  • LRG_776t1:c.333G>A
  • LRG_776:g.204688G>A
  • NC_000003.11:g.69988320G>A
  • NM_000248.3:c.333G>A
Links:
dbSNP: rs200769309
NCBI 1000 Genomes Browser:
rs200769309
Molecular consequence:
  • NM_000248.4:c.333G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001184967.2:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354604.2:c.654G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354605.2:c.651G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354606.2:c.651G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354607.2:c.603G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354608.2:c.498G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_006722.3:c.651G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198158.3:c.333G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198159.3:c.654G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198177.3:c.606G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198178.3:c.165G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001795725GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Jun 24, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001795725.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024