NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 31, 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:: RCV000850573.1

Allele description [Variation Report for NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg)]

NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg)

Genes:

NKX2-1:NK2 homeobox 1 [Gene - OMIM - HGNC]
SFTA3:surfactant associated 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q13.3

Genomic location:

Preferred name:

NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg)

HGVS:

NC_000014.9:g.36517612G>C
NG_013365.1:g.7614C>G
NM_001079668.2:c.872C>G
NM_001079668.3:c.872C>GMANE SELECT
NM_003317.4:c.782C>G
NP_001073136.1:p.Pro291Arg
NP_003308.1:p.Pro261Arg
NC_000014.8:g.36986817G>C

Protein change:

P261R

Links:

dbSNP: rs1057519223

NCBI 1000 Genomes Browser:

rs1057519223

Molecular consequence:

NM_001079668.3:c.872C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003317.4:c.782C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Benign hereditary chorea (BHC)
Synonyms:: HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA
Identifiers:: MONDO: MONDO:0021011; MedGen: C0393584; Orphanet: 1429; OMIM: 118700

Name:: Brain-lung-thyroid syndrome
Synonyms:: Choreoathetosis, hypothyroidism, and neonatal respiratory distress; CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH PULMONARY DYSFUNCTION
Identifiers:: MONDO: MONDO:0012593; MedGen: C1970269; Orphanet: 209905; OMIM: 610978

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000992793	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 31, 2017)	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

SCV000992793

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 31, 2017)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV000992793.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 8, 2023

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