NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) AND Rare genetic deafness

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 2, 2023
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:: RCV004017307.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)]

NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)

Gene:

SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.3

Genomic location:

Preferred name:

NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)

HGVS:

NC_000007.14:g.107710183G>T
NG_008489.1:g.54549G>T
NM_000441.2:c.2219G>TMANE SELECT
NP_000432.1:p.Gly740Val
NC_000007.13:g.107350628G>T
NM_000441.1:c.2219G>T
c.2219G>T

Protein change:

G740V

Links:

dbSNP: rs111033310

NCBI 1000 Genomes Browser:

rs111033310

Molecular consequence:

NM_000441.2:c.2219G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Rare genetic deafness
Identifiers:: MedGen: C5680250; Orphanet: 96210

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Homo sapiens crystallin, beta B3, mRNA (cDNA clone MGC:125773 IMAGE:40029651), c...
Homo sapiens crystallin, beta B3, mRNA (cDNA clone MGC:125773 IMAGE:40029651), complete cds
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000060136	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Feb 2, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 18285825, 16570074, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000060136

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Feb 2, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.

Pera A, Villamar M, Viñuela A, Gandía M, Medà C, Moreno F, Hernández-Chico C.

Eur J Hum Genet. 2008 Aug;16(8):888-96. doi: 10.1038/ejhg.2008.30. Epub 2008 Feb 20.

PubMed [citation]

PMID:: 18285825

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, Sergent-Allaoui A, Houang M, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Dollfus H, Eliot MM, David A, Calais C, Drouin-Garraud V, Obstoy MF, Tran Ba Huy P, Lacombe D, et al.

Eur J Hum Genet. 2006 Jun;14(6):773-9.

PubMed [citation]

PMID:: 16570074

See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000060136.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Albert 2006 PMID: 16570074 1 proband (HL+EVA) with T307M (VUS) in cis, and Y530H (LP) in trans; 1 sib-pair (HL+EVA) with FS in trans, Landa 2013 PMID 23965030 2 probands with HL +EVA or goiter, 1 carries a splice variant (phase unknown), the second only het Makretskaya (2018) PMID: 30240412 Het in 1 pt with congenital hypothyroidism ACMG/AMP codes: PM3, PM2_Supporting (AJ high- however bottleneck pop).

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

Last Updated: Nov 3, 2024

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