NM_001079668.3(NKX2-1):c.532G>A (p.Asp178Asn) AND Interstitial lung disease 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 1, 2022
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:: RCV002284292.1

Allele description [Variation Report for NM_001079668.3(NKX2-1):c.532G>A (p.Asp178Asn)]

NM_001079668.3(NKX2-1):c.532G>A (p.Asp178Asn)

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.532G>A (p.Asp178Asn)

HGVS:

NC_000014.9:g.36517952C>T
NG_013365.1:g.7274G>A
NM_001079668.3:c.532G>AMANE SELECT
NM_003317.4:c.442G>A
NP_001073136.1:p.Asp178Asn
NP_003308.1:p.Asp148Asn
NC_000014.8:g.36987157C>T

Protein change:

D148N

Molecular consequence:

NM_001079668.3:c.532G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003317.4:c.442G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Interstitial lung disease 2 (ILD2)
Synonyms:: Fibrosing alveolitis, cryptogenic; Familial idiopathic pulmonary fibrosis; Fibrocystic pulmonary dysplasia
Identifiers:: MONDO: MONDO:0800029; MedGen: C5561926; Orphanet: 2032; Orphanet: 79126; OMIM: 178500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002573695	Alder lab, University of Pittsburgh	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 1, 2022)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002573695

Alder lab, University of Pittsburgh

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 1, 2022)

germline

research

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	research

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 Alder lab, University of Pittsburgh, SCV002573695.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	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: Aug 5, 2023

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Relating variation to medicine