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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001478212	Genetic 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 novo	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

SCV001478212

Genetic 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 novo

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	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical 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

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 25, 2023

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