NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 17, 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:: RCV004033977.1

Allele description [Variation Report for NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn)]

NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn)

Gene:

CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

Preferred name:

NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn)

HGVS:

NC_000001.11:g.197421773G>A
NG_008483.2:g.225312G>A
NM_001193640.2:c.1609G>A
NM_001257965.2:c.1738G>A
NM_001257966.2:c.1945G>A
NM_201253.3:c.1945G>AMANE SELECT
NP_001180569.1:p.Asp537Asn
NP_001244894.1:p.Asp580Asn
NP_001244895.1:p.Asp649Asn
NP_957705.1:p.Asp649Asn
NC_000001.10:g.197390903G>A
NM_201253.2:c.1945G>A
NR_047563.2:n.1898G>A
NR_047564.2:n.2106G>A

Protein change:

D537N

Links:

dbSNP: rs138936375

NCBI 1000 Genomes Browser:

rs138936375

Molecular consequence:

NM_001193640.2:c.1609G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001257965.2:c.1738G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001257966.2:c.1945G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201253.3:c.1945G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_047563.2:n.1898G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_047564.2:n.2106G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

nsv528849 (1)
dbVar

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004852066	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 17, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004852066

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 17, 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, SCV004852066.1

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

Description

The c.1945G>A (p.D649N) alteration is located in exon 6 (coding exon 6) of the CRB1 gene. This alteration results from a G to A substitution at nucleotide position 1945, causing the aspartic acid (D) at amino acid position 649 to be replaced by an asparagine (N). 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: Sep 29, 2024

ClinVar

Relating variation to medicine