NM_000441.2(SLC26A4):c.2110G>A (p.Glu704Lys) AND Pendred syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 2, 2018
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:: RCV000673751.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2110G>A (p.Glu704Lys)]

NM_000441.2(SLC26A4):c.2110G>A (p.Glu704Lys)

Genes:

LOC123956210:Sharpr-MPRA regulatory region 3291 [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.2110G>A (p.Glu704Lys)

HGVS:

NC_000007.14:g.107710074G>A
NG_008489.1:g.54440G>A
NM_000441.2:c.2110G>AMANE SELECT
NP_000432.1:p.Glu704Lys
NC_000007.13:g.107350519G>A
NM_000441.1:c.2110G>A

Protein change:

E704K

Links:

dbSNP: rs147733656

NCBI 1000 Genomes Browser:

rs147733656

Molecular consequence:

NM_000441.2:c.2110G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pendred syndrome (PDS)
Synonyms:: DEAFNESS WITH GOITER; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B; THYROID DYSHORMONOGENESIS 2B; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010134; MedGen: C0271829; Orphanet: 705; OMIM: 274600

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000798988	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Apr 2, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000798988

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Apr 2, 2018)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Identification of SLC26A4 mutations p.L582LfsX4, p.I188T and p.E704K in a Chinese family with large vestibular aqueduct syndrome (LVAS).

Li Y, Zhu B, Su J, Yin Y, Yu F.

Int J Pediatr Otorhinolaryngol. 2016 Dec;91:1-5. doi: 10.1016/j.ijporl.2016.08.026. Epub 2016 Aug 30.

PubMed [citation]

PMID:: 27863619

Details of each submission

From Counsyl, SCV000798988.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 17, 2022

ClinVar

Relating variation to medicine