NM_015215.4(CAMTA1):c.4922G>A (p.Arg1641Gln) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 17, 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:: RCV003839627.2

Allele description [Variation Report for NM_015215.4(CAMTA1):c.4922G>A (p.Arg1641Gln)]

NM_015215.4(CAMTA1):c.4922G>A (p.Arg1641Gln)

Gene:

CAMTA1:calmodulin binding transcription activator 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.23

Genomic location:

Preferred name:

NM_015215.4(CAMTA1):c.4922G>A (p.Arg1641Gln)

HGVS:

NC_000001.11:g.7752497G>A
NG_053148.1:g.972174G>A
NM_001349608.2:c.4832G>A
NM_001349609.2:c.4604G>A
NM_001349610.2:c.4598G>A
NM_001349612.2:c.4514G>A
NM_001349613.1:c.2051G>A
NM_001349614.1:c.2015G>A
NM_001349615.2:c.2015G>A
NM_001349616.2:c.2015G>A
NM_001349617.1:c.1994G>A
NM_001349618.2:c.1994G>A
NM_001349619.2:c.1676G>A
NM_001349620.1:c.1676G>A
NM_001349621.1:c.1676G>A
NM_001349622.2:c.1676G>A
NM_001349623.1:c.1655G>A
NM_001349624.3:c.1655G>A
NM_001349625.2:c.1655G>A
NM_001349626.2:c.1655G>A
NM_001410737.1:c.4583G>A
NM_001410738.1:c.4511G>A
NM_015215.4:c.4922G>AMANE SELECT
NP_001336537.1:p.Arg1611Gln
NP_001336538.1:p.Arg1535Gln
NP_001336539.1:p.Arg1533Gln
NP_001336541.1:p.Arg1505Gln
NP_001336542.1:p.Arg684Gln
NP_001336543.1:p.Arg672Gln
NP_001336544.1:p.Arg672Gln
NP_001336545.1:p.Arg672Gln
NP_001336546.1:p.Arg665Gln
NP_001336547.1:p.Arg665Gln
NP_001336548.1:p.Arg559Gln
NP_001336549.1:p.Arg559Gln
NP_001336550.1:p.Arg559Gln
NP_001336551.1:p.Arg559Gln
NP_001336552.1:p.Arg552Gln
NP_001336553.1:p.Arg552Gln
NP_001336554.1:p.Arg552Gln
NP_001336555.1:p.Arg552Gln
NP_001397666.1:p.Arg1528Gln
NP_001397667.1:p.Arg1504Gln
NP_056030.1:p.Arg1641Gln
NC_000001.10:g.7812557G>A

Protein change:

R1504Q

Molecular consequence:

NM_001349608.2:c.4832G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349609.2:c.4604G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349610.2:c.4598G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349612.2:c.4514G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349613.1:c.2051G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349614.1:c.2015G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349615.2:c.2015G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349616.2:c.2015G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349617.1:c.1994G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349618.2:c.1994G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349619.2:c.1676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349620.1:c.1676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349621.1:c.1676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349622.2:c.1676G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349623.1:c.1655G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349624.3:c.1655G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349625.2:c.1655G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001349626.2:c.1655G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001410737.1:c.4583G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001410738.1:c.4511G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015215.4:c.4922G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004639258	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 17, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004639258

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 17, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004639258.1

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

Description

This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1641 of the CAMTA1 protein (p.Arg1641Gln). This variant is present in population databases (rs369220323, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CAMTA1-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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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