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NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) AND Waardenburg syndrome type 2A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2019
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:
RCV001290155.1

Allele description [Variation Report for NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del)]

NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del)

Gene:
MITF:melanocyte inducing transcription factor [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
3p13
Genomic location:
Preferred name:
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del)
HGVS:
  • NC_000003.12:g.69956463AGA[2]
  • NG_011631.1:g.221982AGA[2]
  • NM_000248.4:c.643AGA[2]
  • NM_001184967.2:c.790AGA[2]
  • NM_001354604.2:c.964AGA[2]MANE SELECT
  • NM_001354605.2:c.961AGA[2]
  • NM_001354606.2:c.943AGA[2]
  • NM_001354607.2:c.895AGA[2]
  • NM_001354608.2:c.790AGA[2]
  • NM_006722.3:c.943AGA[2]
  • NM_198158.3:c.625AGA[2]
  • NM_198159.3:c.946AGA[2]
  • NM_198177.3:c.898AGA[2]
  • NM_198178.3:c.457AGA[2]
  • NP_000239.1:p.Arg217del
  • NP_001171896.1:p.Arg266del
  • NP_001341533.1:p.Arg324del
  • NP_001341534.1:p.Arg323del
  • NP_001341535.1:p.Arg317del
  • NP_001341536.1:p.Arg301del
  • NP_001341537.1:p.Arg266del
  • NP_006713.1:p.Arg317del
  • NP_937801.1:p.Arg211del
  • NP_937802.1:p.Arg318del
  • NP_937820.1:p.Arg302del
  • NP_937821.2:p.Arg155del
  • LRG_776t1:c.643AGA[2]
  • LRG_776t1:c.649_651del
  • LRG_776:g.221982AGA[2]
  • NC_000003.11:g.70005614AGA[2]
  • NC_000003.11:g.70005620_70005622delAGA
  • NM_000248.3:c.643AGA[2]
  • NM_000248.3:c.643AGA[2]
  • NM_000248.3:c.649_651del
  • NM_000248.3:c.649_651delAGA
  • NM_000248.3:c.649_651delAGA
  • NM_001354604.2:c.970_972delMANE SELECT
  • p.Arg217del
Protein change:
R155del; ARG217DEL
Links:
OMIM: 156845.0003; dbSNP: rs1553704814
NCBI 1000 Genomes Browser:
rs1553704814
Molecular consequence:
  • NM_000248.4:c.643AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001184967.2:c.790AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354604.2:c.964AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354605.2:c.961AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354606.2:c.943AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354607.2:c.895AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354608.2:c.790AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_006722.3:c.943AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_198158.3:c.625AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_198159.3:c.946AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_198177.3:c.898AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_198178.3:c.457AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Waardenburg syndrome type 2A (WS2A)
Synonyms:
WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM
Identifiers:
MONDO: MONDO:0008671; MedGen: C1860339; Orphanet: 3440; OMIM: 193510

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001478212Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jan 1, 2019)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, SCV001478212.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 25, 2023