NM_152750.5(CDHR3):c.691G>A (p.Asp231Asn) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 31, 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:: RCV004299657.1

Allele description [Variation Report for NM_152750.5(CDHR3):c.691G>A (p.Asp231Asn)]

NM_152750.5(CDHR3):c.691G>A (p.Asp231Asn)

Gene:

CDHR3:cadherin related family member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.3

Genomic location:

Preferred name:

NM_152750.5(CDHR3):c.691G>A (p.Asp231Asn)

HGVS:

NC_000007.14:g.105996332G>A
NM_001301161.2:c.427G>A
NM_152750.5:c.691G>AMANE SELECT
NP_001288090.1:p.Asp143Asn
NP_689963.2:p.Asp231Asn
NC_000007.13:g.105636778G>A
NM_152750.4:c.691G>A

Protein change:

D143N

Molecular consequence:

NM_001301161.2:c.427G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_152750.5:c.691G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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PREDICTED: Gallus gallus vesicular, overexpressed in cancer, prosurvival protein...
PREDICTED: Gallus gallus vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), transcript variant X11, mRNA
gi|2201654421|ref|XM_046938356.1|

Nucleotide
PREDICTED: Gallus gallus biogenesis of lysosomal organelles complex 1 subunit 4 ...
PREDICTED: Gallus gallus biogenesis of lysosomal organelles complex 1 subunit 4 (BLOC1S4), transcript variant X2, mRNA
gi|2201654437|ref|XM_040696436.2|

Nucleotide
PREDICTED: uncharacterized protein LOC104968311 isoform X1 [Notothenia coriiceps...
PREDICTED: uncharacterized protein LOC104968311 isoform X1 [Notothenia coriiceps]
gi|736312064|ref|XP_010796188.1|

Protein
Chain E, Proteasome subunit alpha type-5
Chain E, Proteasome subunit alpha type-5
gi|1494592403|pdb|6EF1|E

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003960254	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 31, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003960254

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 31, 2023)

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, SCV003960254.2

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

Description

The c.691G>A (p.D231N) alteration is located in exon 6 (coding exon 6) of the CDHR3 gene. This alteration results from a G to A substitution at nucleotide position 691, causing the aspartic acid (D) at amino acid position 231 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: Nov 3, 2024

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