NM_004056.6(CA8):c.41C>G (p.Pro14Arg) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 27, 2022
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:: RCV002542484.3

Allele description [Variation Report for NM_004056.6(CA8):c.41C>G (p.Pro14Arg)]

NM_004056.6(CA8):c.41C>G (p.Pro14Arg)

Gene:

CA8:carbonic anhydrase 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.1

Genomic location:

Preferred name:

NM_004056.6(CA8):c.41C>G (p.Pro14Arg)

HGVS:

NC_000008.11:g.60281107G>C
NG_023193.2:g.5289C>G
NM_001321837.2:c.41C>G
NM_001321838.2:c.41C>G
NM_001321839.2:c.41C>G
NM_004056.4:c.41C>G
NM_004056.6:c.41C>GMANE SELECT
NP_001308766.1:p.Pro14Arg
NP_001308767.1:p.Pro14Arg
NP_001308768.1:p.Pro14Arg
NP_004047.3:p.Pro14Arg
NC_000008.10:g.61193666G>C
NR_135821.2:n.294C>G

Protein change:

P14R

Links:

dbSNP: rs746415479

NCBI 1000 Genomes Browser:

rs746415479

Molecular consequence:

NM_001321837.2:c.41C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321838.2:c.41C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321839.2:c.41C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004056.6:c.41C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_135821.2:n.294C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003698154	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 27, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003698154

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 27, 2022)

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, SCV003698154.2

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

Description

The c.41C>G (p.P14R) alteration is located in exon 1 (coding exon 1) of the CA8 gene. This alteration results from a C to G substitution at nucleotide position 41, causing the proline (P) at amino acid position 14 to be replaced by an arginine (R). 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: Oct 20, 2024

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