NM_001379180.1(ESRRB):c.1300G>A (p.Val434Ile) AND not provided

Germline classification:: Benign (4 submissions)
Last evaluated:: Jan 19, 2024
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:: RCV000991972.12

Allele description [Variation Report for NM_001379180.1(ESRRB):c.1300G>A (p.Val434Ile)]

NM_001379180.1(ESRRB):c.1300G>A (p.Val434Ile)

Gene:

ESRRB:estrogen related receptor beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.3

Genomic location:

Preferred name:

NM_001379180.1(ESRRB):c.1300G>A (p.Val434Ile)

HGVS:

NC_000014.9:g.76498393G>A
NG_012278.2:g.132047G>A
NM_001379180.1:c.1300G>AMANE SELECT
NM_004452.4:c.1237G>A
NP_001366109.1:p.Val434Ile
NP_004443.3:p.Val413Ile
NP_004443.3:p.Val413Ile
NC_000014.8:g.76964736G>A
NM_004452.3:c.1237G>A
c.1237G>A

Protein change:

V413I

Links:

dbSNP: rs146351534

NCBI 1000 Genomes Browser:

rs146351534

Molecular consequence:

NM_001379180.1:c.1300G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004452.4:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000717823	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Mar 26, 2019)	germline	clinical testing	Citation Link,
SCV001143887	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Jan 23, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 29636544, 22951369, 26467025
SCV002409580	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 19, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004041908	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Jan 1, 2024)	germline	clinical testing	Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	7	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

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy.

Borgulová I, Soldatova I, Putzová M, Malíková M, Neupauerová J, Marková SP, Trková M, Seeman P.

J Hum Genet. 2018 Jul;63(7):803-810. doi: 10.1038/s10038-018-0444-9. Epub 2018 Apr 10.

PubMed [citation]

PMID:: 29636544

DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family.

Šafka Brožková D, Laštůvková J, Machalová E, Lisoňová J, Trková M, Seeman P.

Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1681-4. doi: 10.1016/j.ijporl.2012.08.006. Epub 2012 Aug 27.

PubMed [citation]

PMID:: 22951369

See all PubMed Citations (4)

Details of each submission

From GeneDx, SCV000717823.2

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

Description

This variant is associated with the following publications: (PMID: 22951369, 29636544)

#	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

From Athena Diagnostics Inc, SCV001143887.1

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

From Invitae, SCV002409580.3

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

From CeGaT Center for Human Genetics Tuebingen, SCV004041908.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	7	not provided	not provided	clinical testing	not provided

Description

ESRRB: BP4, BS1, BS2

#	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		7	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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