NM_144687.4(NLRP12):c.395A>G (p.Tyr132Cys) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 15, 2021
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:: RCV002553804.2

Allele description [Variation Report for NM_144687.4(NLRP12):c.395A>G (p.Tyr132Cys)]

NM_144687.4(NLRP12):c.395A>G (p.Tyr132Cys)

Gene:

NLRP12:NLR family pyrin domain containing 12 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

Preferred name:

NM_144687.4(NLRP12):c.395A>G (p.Tyr132Cys)

Other names:

p.Tyr132Cys

HGVS:

NC_000019.10:g.53811264T>C
NG_008651.2:g.18131A>G
NM_001277126.2:c.395A>G
NM_001277129.1:c.395A>G
NM_144687.2:c.395A>G
NM_144687.4:c.395A>GMANE SELECT
NP_001264055.1:p.Tyr132Cys
NP_001264058.1:p.Tyr132Cys
NP_653288.1:p.Tyr132Cys
LRG_181t1:c.395A>G
LRG_181t2:c.395A>G
LRG_181:g.18131A>G
LRG_181p1:p.Tyr132Cys
LRG_181p2:p.Tyr132Cys
NC_000019.9:g.54314518T>C
NG_008651.1:g.18131A>G
NM_144687.3:c.395A>G

Protein change:

Y132C

Links:

dbSNP: rs781619673

NCBI 1000 Genomes Browser:

rs781619673

Molecular consequence:

NM_001277126.2:c.395A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001277129.1:c.395A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_144687.4:c.395A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003694758	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 15, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003694758

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 15, 2021)

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

Details of each submission

From Ambry Genetics, SCV003694758.2

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

Description

The c.395A>G (p.Y132C) alteration is located in exon 3 (coding exon 3) of the NLRP12 gene. This alteration results from a A to G substitution at nucleotide position 395, causing the tyrosine (Y) at amino acid position 132 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Nov 24, 2024

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