NM_001354712.2(THRB):c.161C>T (p.Ser54Leu) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 7, 2019
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:: RCV001403729.4

Allele description

NM_001354712.2(THRB):c.161C>T (p.Ser54Leu)

Gene:

THRB:thyroid hormone receptor beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.2

Genomic location:

Preferred name:

NM_001354712.2(THRB):c.161C>T (p.Ser54Leu)

HGVS:

NC_000003.12:g.24190196G>A
NG_009159.1:g.309627C>T
NM_000461.5:c.161C>T
NM_001128176.3:c.161C>T
NM_001128177.2:c.161C>T
NM_001252634.2:c.161C>T
NM_001354708.2:c.161C>T
NM_001354709.2:c.161C>T
NM_001354710.2:c.161C>T
NM_001354711.2:c.161C>T
NM_001354712.2:c.161C>TMANE SELECT
NM_001354713.2:c.161C>T
NM_001354714.2:c.68C>T
NM_001354715.2:c.68C>T
NM_001374822.1:c.161C>T
NM_001374823.1:c.161C>T
NM_001374824.1:c.161C>T
NM_001374825.1:c.161C>T
NM_001374826.1:c.161C>T
NM_001374827.1:c.161C>T
NP_000452.2:p.Ser54Leu
NP_001121648.1:p.Ser54Leu
NP_001121649.1:p.Ser54Leu
NP_001239563.1:p.Ser54Leu
NP_001341637.1:p.Ser54Leu
NP_001341638.1:p.Ser54Leu
NP_001341639.1:p.Ser54Leu
NP_001341640.1:p.Ser54Leu
NP_001341641.1:p.Ser54Leu
NP_001341642.1:p.Ser54Leu
NP_001341643.1:p.Ser23Leu
NP_001341644.1:p.Ser23Leu
NP_001361751.1:p.Ser54Leu
NP_001361752.1:p.Ser54Leu
NP_001361753.1:p.Ser54Leu
NP_001361754.1:p.Ser54Leu
NP_001361755.1:p.Ser54Leu
NP_001361756.1:p.Ser54Leu
NC_000003.11:g.24231687G>A

Protein change:

S23L

Links:

dbSNP: rs141731067

NCBI 1000 Genomes Browser:

rs141731067

Molecular consequence:

NM_000461.5:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001128176.3:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001128177.2:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001252634.2:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354708.2:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354709.2:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354710.2:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354711.2:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354712.2:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354713.2:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354714.2:c.68C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001354715.2:c.68C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374822.1:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374823.1:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374824.1:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374825.1:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374826.1:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001374827.1:c.161C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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
SCV001605610	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 7, 2019)	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

SCV001605610

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Dec 7, 2019)

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001605610.2

#	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

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine