NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) AND Partial androgen insensitivity syndrome

Germline classification:: Benign (1 submission)
Last evaluated:: May 4, 2023
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:: RCV003993753.1

Allele description [Variation Report for NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)]

NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)

Gene:

GLI2:GLI family zinc finger 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q14.2

Genomic location:

Preferred name:

NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn)

HGVS:

NC_000002.12:g.120990472G>A
NG_009030.1:g.198182G>A
NM_001371271.1:c.4558G>A
NM_001374353.1:c.4507G>AMANE SELECT
NM_001374354.1:c.4132G>A
NM_005270.5:c.4558G>A
NP_001358200.1:p.Asp1520Asn
NP_001361282.1:p.Asp1503Asn
NP_001361283.1:p.Asp1378Asn
NP_005261.2:p.Asp1520Asn
NP_005261.2:p.Asp1520Asn
NC_000002.11:g.121748048G>A
NM_005270.4:c.4558G>A
P10070:p.Asp1520Asn

Protein change:

D1378N; ASP1520ASN

Links:

UniProtKB: P10070#VAR_075217; OMIM: 165230.0007; dbSNP: rs114814747

NCBI 1000 Genomes Browser:

rs114814747

Molecular consequence:

NM_001371271.1:c.4558G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374353.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374354.1:c.4132G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005270.5:c.4558G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Partial androgen insensitivity syndrome (PAIS)
Synonyms:: ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER; Gynecomastia, familial; Pseudohermaphroditism, Incomplete male, type I; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010720; MedGen: C0268301; Orphanet: 90797; OMIM: 312300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004812727	Molecular Genetics, Royal Melbourne Hospital See additional submitters Shariant Australia, Australian Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (May 4, 2023)	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

SCV004812727

Molecular Genetics, Royal Melbourne Hospital

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(May 4, 2023)

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 Molecular Genetics, Royal Melbourne Hospital, SCV004812727.1

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

Description

European Non-Finnish population allele frequency is 1.398% (rs114814747, 1841/128804 alleles, 11 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.3.2, this variant is classified as BENIGN. Following criteria are met: BA1

#	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: Oct 20, 2024

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