NM_015692.5(CPAMD8):c.4650C>G (p.His1550Gln) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 13, 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:: RCV002718748.2

Allele description [Variation Report for NM_015692.5(CPAMD8):c.4650C>G (p.His1550Gln)]

NM_015692.5(CPAMD8):c.4650C>G (p.His1550Gln)

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.4650C>G (p.His1550Gln)

HGVS:

NC_000019.10:g.16902684G>C
NG_054892.1:g.129135C>G
NM_015692.5:c.4650C>GMANE SELECT
NP_056507.3:p.His1550Gln
NC_000019.9:g.17013494G>C
NM_015692.2:c.4791C>G

Protein change:

H1550Q

Molecular consequence:

NM_015692.5:c.4650C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Metagenome or environmental sample from soil metagenome
Metagenome or environmental sample from soil metagenome

biosample
PREDICTED: Homo sapiens C3 and PZP like alpha-2-macroglobulin domain containing ...
PREDICTED: Homo sapiens C3 and PZP like alpha-2-macroglobulin domain containing 8 (CPAMD8), transcript variant X1, mRNA
gi|2217320552|ref|XM_011527917.2|

Nucleotide

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
SCV003560585	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 13, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003560585

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 13, 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, SCV003560585.2

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

Description

The c.4791C>G (p.H1597Q) alteration is located in exon 35 (coding exon 35) of the CPAMD8 gene. This alteration results from a C to G substitution at nucleotide position 4791, causing the histidine (H) at amino acid position 1597 to be replaced by a glutamine (Q). 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: May 1, 2024

ClinVar

Relating variation to medicine