NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile) AND Pendred syndrome

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Sep 5, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000670464.4

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile)]

NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile)

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.1234G>A (p.Val412Ile)

HGVS:

NC_000007.14:g.107690208G>A
NG_008489.1:g.34574G>A
NM_000441.2:c.1234G>AMANE SELECT
NP_000432.1:p.Val412Ile
NC_000007.13:g.107330653G>A
NM_000441.1:c.1234G>A
c.1234G>A

Protein change:

V412I

Links:

dbSNP: rs111033527

NCBI 1000 Genomes Browser:

rs111033527

Molecular consequence:

NM_000441.2:c.1234G>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

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coiled-coil domain-containing 14, partial [Buteo jamaicensis]
coiled-coil domain-containing 14, partial [Buteo jamaicensis]
gi|2062403367|gb|QXF79043.1|

Protein
MAPK and MTOR activator 3, partial [Scopus umbretta]
MAPK and MTOR activator 3, partial [Scopus umbretta]
gi|2062395493|gb|QXF78307.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000795318	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Nov 14, 2017)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 26549381, 27884173, 23965030 Citation Link,
SCV001459868	Natera, Inc.	no assertion criteria provided	Uncertain significance (Jan 8, 2020)	germline	clinical testing
SCV002027009	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 5, 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

SCV000795318

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Nov 14, 2017)

unknown

clinical testing

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

Citation Link,

SCV001459868

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Jan 8, 2020)

germline

clinical testing

SCV002027009

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 5, 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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations.

Pang X, Chai Y, He L, Chen P, Wang X, Li L, Jia H, Wu H, Yang T.

Int J Pediatr Otorhinolaryngol. 2015 Dec;79(12):2248-52. doi: 10.1016/j.ijporl.2015.10.015. Epub 2015 Oct 23.

PubMed [citation]

PMID:: 26549381

Revisiting the morbid genome of Mendelian disorders.

Abouelhoda M, Faquih T, El-Kalioby M, Alkuraya FS.

Genome Biol. 2016 Nov 24;17(1):235.

PubMed [citation]

PMID:: 27884173
PMCID:: PMC5123336

See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000795318.1

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

#	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

From Natera, Inc., SCV001459868.1

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

#	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

From Genome-Nilou Lab, SCV002027009.1

#	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	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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