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NM_001354604.2(MITF):c.1031+1G>A AND Waardenburg syndrome type 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 26, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000770828.1

Allele description [Variation Report for NM_001354604.2(MITF):c.1031+1G>A]

NM_001354604.2(MITF):c.1031+1G>A

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.1031+1G>A
HGVS:
  • NC_000003.12:g.69956531G>A
  • NG_011631.1:g.222050G>A
  • NM_000248.4:c.710+1G>A
  • NM_001184967.2:c.857+1G>A
  • NM_001354604.2:c.1031+1G>AMANE SELECT
  • NM_001354605.2:c.1028+1G>A
  • NM_001354606.2:c.1010+1G>A
  • NM_001354607.2:c.962+1G>A
  • NM_001354608.2:c.857+1G>A
  • NM_006722.3:c.1010+1G>A
  • NM_198158.3:c.692+1G>A
  • NM_198159.3:c.1013+1G>A
  • NM_198177.3:c.965+1G>A
  • NM_198178.3:c.524+1G>A
  • LRG_776t1:c.710+1G>A
  • LRG_776:g.222050G>A
  • NC_000003.11:g.70005682G>A
  • NM_000248.3:c.710+1G>A
  • NM_198159.2:c.1013+1G>A
Links:
dbSNP: rs1559749017
NCBI 1000 Genomes Browser:
rs1559749017
Molecular consequence:
  • NM_000248.4:c.710+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001184967.2:c.857+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354604.2:c.1031+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354605.2:c.1028+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354606.2:c.1010+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354607.2:c.962+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354608.2:c.857+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_006722.3:c.1010+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_198158.3:c.692+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_198159.3:c.1013+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_198177.3:c.965+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_198178.3:c.524+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Waardenburg syndrome type 1 (WS1)
Synonyms:
WAARDENBURG SYNDROME WITH DYSTOPIA CANTHORUM; Waardenburg's syndrome type 1
Identifiers:
MONDO: MONDO:0008670; MedGen: C1847800; OMIM: 193500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000902329Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
no assertion criteria provided
Likely pathogenic
(Feb 26, 2019) 		inheritedcase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes12not providednot providedyescase-control

Details of each submission

From Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, SCV000902329.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyescase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not provided2not provided

Last Updated: Apr 13, 2025