NM_001077415.3(CRELD1):c.484C>G (p.Pro162Ala) AND Atrioventricular septal defect, susceptibility to, 2

Germline classification:: risk factor (1 submission)
Last evaluated:: Jun 1, 2005
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000003599.3

Allele description [Variation Report for NM_001077415.3(CRELD1):c.484C>G (p.Pro162Ala)]

NM_001077415.3(CRELD1):c.484C>G (p.Pro162Ala)

Gene:

CRELD1:cysteine rich with EGF like domains 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_001077415.3(CRELD1):c.484C>G (p.Pro162Ala)

HGVS:

NC_000003.12:g.9940873C>G
NG_017069.1:g.12033C>G
NM_001031717.4:c.484C>G
NM_001077415.3:c.484C>GMANE SELECT
NM_001374316.1:c.484C>G
NM_001374317.1:c.484C>G
NM_001374318.1:c.484C>G
NM_001374319.1:c.484C>G
NM_001374320.1:c.484C>G
NM_015513.6:c.484C>G
NP_001026887.2:p.Pro162Ala
NP_001070883.2:p.Pro162Ala
NP_001361245.1:p.Pro162Ala
NP_001361246.1:p.Pro162Ala
NP_001361247.1:p.Pro162Ala
NP_001361248.1:p.Pro162Ala
NP_001361249.1:p.Pro162Ala
NP_056328.3:p.Pro162Ala
NC_000003.11:g.9982557C>G
NR_164475.1:n.522C>G
NR_164476.1:n.498C>G
NR_164477.1:n.872C>G
Q96HD1:p.Pro162Ala

Protein change:

P162A; PRO162ALA

Links:

UniProtKB: Q96HD1#VAR_023765; OMIM: 607170.0004; dbSNP: rs121912626

NCBI 1000 Genomes Browser:

rs121912626

Molecular consequence:

NM_001031717.4:c.484C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001077415.3:c.484C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374316.1:c.484C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374317.1:c.484C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374318.1:c.484C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374319.1:c.484C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374320.1:c.484C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_015513.6:c.484C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_164475.1:n.522C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164476.1:n.498C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_164477.1:n.872C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Atrioventricular septal defect, susceptibility to, 2
Synonyms:: Atrioventricular septal defect 2
Identifiers:: MONDO: MONDO:0011650; MedGen: C1853508; OMIM: 606217

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000023757	OMIM	no assertion criteria provided	risk factor (Jun 1, 2005)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000023757

OMIM

no assertion criteria provided

risk factor
(Jun 1, 2005)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2).

Zatyka M, Priestley M, Ladusans EJ, Fryer AE, Mason J, Latif F, Maher ER.

Clin Genet. 2005 Jun;67(6):526-8. No abstract available.

PubMed [citation]

PMID:: 15857420

Details of each submission

From OMIM, SCV000023757.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with sporadic partial atrioventricular septal defect (606217) and a 47,XXX karyotype, Zatyka et al. (2005) identified a 484C-G transversion in exon 5 of the CRELD1 gene, resulting in a pro162-to-ala (P162A) substitution. The mutation was not identified in 200 control chromosomes but was found in the patient's mother and maternal grandmother, neither of whom had congenital heart disease. Zatyka et al. (2005) suggested that the P162A mutation, if causative, showed reduced penetrance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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