NM_015692.5(CPAMD8):c.5461G>A (p.Gly1821Arg) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 1, 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:: RCV002562158.2

Allele description [Variation Report for NM_015692.5(CPAMD8):c.5461G>A (p.Gly1821Arg)]

NM_015692.5(CPAMD8):c.5461G>A (p.Gly1821Arg)

Gene:

CPAMD8:C3 and PZP like alpha-2-macroglobulin domain containing 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.11

Genomic location:

Preferred name:

NM_015692.5(CPAMD8):c.5461G>A (p.Gly1821Arg)

HGVS:

NC_000019.10:g.16893305C>T
NG_032894.1:g.9291C>T
NG_054892.1:g.138514G>A
NM_015692.2:c.5602G>A
NM_015692.5:c.5461G>AMANE SELECT
NP_056507.3:p.Gly1821Arg
LRG_633:g.9291C>T
NC_000019.9:g.17004116C>T
NR_147452.2:n.1371G>A

Protein change:

G1821R

Links:

dbSNP: rs201034139

NCBI 1000 Genomes Browser:

rs201034139

Molecular consequence:

NM_015692.5:c.5461G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_147452.2:n.1371G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

Recent activity

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proline-rich protein 15 [Homo sapiens]
proline-rich protein 15 [Homo sapiens]
gi|1051780257|ref|NP_001316925.1|

Protein
DNA-dependemt RNA polymerase beta subunit, partial [Pasteurellaceae bacterium]
DNA-dependemt RNA polymerase beta subunit, partial [Pasteurellaceae bacterium]
gi|1134677075|gb|APX42653.1|

Protein
long-wavelength opsin, partial [Dryocosmus juliae]
long-wavelength opsin, partial [Dryocosmus juliae]
gi|1569273460|gb|QBB02611.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003699387	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 1, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003699387

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 1, 2021)

germline

clinical testing

Citation Link

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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, SCV003699387.2

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

Description

The c.5602G>A (p.G1868R) alteration is located in exon 42 (coding exon 42) of the CPAMD8 gene. This alteration results from a G to A substitution at nucleotide position 5602, causing the glycine (G) at amino acid position 1868 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: Sep 29, 2024

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