NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro) AND Pendred syndrome

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Jun 12, 2017
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:: RCV000667731.3

Allele description [Variation Report for NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro)]

NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro)

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.2186T>C (p.Leu729Pro)

HGVS:

NC_000007.14:g.107710150T>C
NG_008489.1:g.54516T>C
NM_000441.2:c.2186T>CMANE SELECT
NP_000432.1:p.Leu729Pro
NC_000007.13:g.107350595T>C
NM_000441.1:c.2186T>C

Protein change:

L729P

Links:

dbSNP: rs1045933779

NCBI 1000 Genomes Browser:

rs1045933779

Molecular consequence:

NM_000441.2:c.2186T>C - 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
SCV000792227	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Jun 12, 2017)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 25394566, 20146813, 23336812, 23401162 Citation Link,
SCV002080027	Natera, Inc.	no assertion criteria provided	Likely pathogenic (Mar 20, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000792227

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Jun 12, 2017)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV002080027

Natera, Inc.

no assertion criteria provided

Likely pathogenic
(Mar 20, 2021)

germline

clinical testing

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

Citations

PubMed

Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.

Soh LM, Druce M, Grossman AB, Differ AM, Rajput L, Bitner-Glindzicz M, Korbonits M.

Eur J Endocrinol. 2015 Feb;172(2):217-26. doi: 10.1530/EJE-14-0679. Epub 2014 Nov 13.

PubMed [citation]

PMID:: 25394566

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.

Kothiyal P, Cox S, Ebert J, Husami A, Kenna MA, Greinwald JH, Aronow BJ, Rehm HL.

BMC Biotechnol. 2010 Feb 10;10:10. doi: 10.1186/1472-6750-10-10.

PubMed [citation]

PMID:: 20146813
PMCID:: PMC2841091

See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000792227.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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., SCV002080027.1

#	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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine