NM_001354604.2(MITF):c.1180-2A>G AND Waardenburg syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 12, 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:: RCV001375177.4

Allele description [Variation Report for NM_001354604.2(MITF):c.1180-2A>G]

NM_001354604.2(MITF):c.1180-2A>G

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.1180-2A>G

HGVS:

NC_000003.12:g.69964845A>G
NG_011631.1:g.230364A>G
NM_000248.4:c.859-2A>G
NM_001184967.2:c.1006-2A>G
NM_001354604.2:c.1180-2A>GMANE SELECT
NM_001354605.2:c.1177-2A>G
NM_001354606.2:c.1159-2A>G
NM_001354607.2:c.1111-2A>G
NM_001354608.2:c.1006-2A>G
NM_006722.3:c.1159-2A>G
NM_198158.3:c.841-2A>G
NM_198159.3:c.1162-2A>G
NM_198177.3:c.1114-2A>G
NM_198178.3:c.673-2A>G
LRG_776:g.230364A>G
NC_000003.11:g.70013996A>G
NM_001354604.1:c.1180-2A>G

Links:

dbSNP: rs1064797294

NCBI 1000 Genomes Browser:

rs1064797294

Molecular consequence:

NM_000248.4:c.859-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001184967.2:c.1006-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354604.2:c.1180-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354605.2:c.1177-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354606.2:c.1159-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354607.2:c.1111-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001354608.2:c.1006-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_006722.3:c.1159-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_198158.3:c.841-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_198159.3:c.1162-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_198177.3:c.1114-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_198178.3:c.673-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Waardenburg syndrome
Synonyms:: Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome; Ptosis-Epicanthus Syndrome; Mende Syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018094; MedGen: C3266898; OMIM: PS193500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001571783	Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center	criteria provided, single submitter (ClinGen HL ACMG Specifications v1)	Likely pathogenic (Apr 12, 2021)	germline	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

SCV001571783

Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center

criteria provided, single submitter

(ClinGen HL ACMG Specifications v1)

Likely pathogenic
(Apr 12, 2021)

germline

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	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]

PMID:: 30311386
PMCID:: PMC6188673

Details of each submission

From Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center, SCV001571783.2

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

Description

PVS1_Strong, PM2_Moderate

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

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine