NM_000388.4(CASR):c.130G>A (p.Val44Ile) AND multiple conditions

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 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:: RCV001360501.6

Allele description

NM_000388.4(CASR):c.130G>A (p.Val44Ile)

Gene:

CASR:calcium sensing receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.1

Genomic location:

Preferred name:

NM_000388.4(CASR):c.130G>A (p.Val44Ile)

HGVS:

NC_000003.12:g.122254319G>A
NG_009058.2:g.75652G>A
NM_000388.4:c.130G>AMANE SELECT
NM_001178065.2:c.130G>A
NP_000379.3:p.Val44Ile
NP_001171536.2:p.Val44Ile
NC_000003.11:g.121973166G>A
NG_009058.1:g.75637G>A
NM_000388.3:c.130G>A
NM_000388.4:c.130G>A

Protein change:

V44I

Links:

dbSNP: rs2074530467

NCBI 1000 Genomes Browser:

rs2074530467

Molecular consequence:

NM_000388.4:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001178065.2:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Familial hypocalciuric hypercalcemia (FHH)
Synonyms:: Familial benign hypercalcemia
Identifiers:: MONDO: MONDO:0018458; MedGen: C1809471; OMIM: PS145980

Name:: Autosomal dominant hypocalcemia 1 (HYPOC1)
Synonyms:: HYPOCALCEMIA, FAMILIAL
Identifiers:: MONDO: MONDO:0011013; MedGen: C0342345; OMIM: 601198

Recent activity

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PREDICTED: Mus musculus regulator of G-protein signaling 12 (Rgs12), transcript ...
PREDICTED: Mus musculus regulator of G-protein signaling 12 (Rgs12), transcript variant X2, mRNA
gi|1907166223|ref|XM_006504121.4|

Nucleotide
Uncultured bacterium clone T1_84 16S ribosomal RNA gene, partial sequence
Uncultured bacterium clone T1_84 16S ribosomal RNA gene, partial sequence
gi|723454925|gb|KM269239.1|

Nucleotide
Uncultured bacterium clone 61CWD 16S ribosomal RNA gene, partial sequence
Uncultured bacterium clone 61CWD 16S ribosomal RNA gene, partial sequence
gi|592877831|gb|KF990468.1|

Nucleotide
txid2491165[Organism:noexp] (13)
Protein
Parevania sp. ZJUH_2016024 mitochondrion, partial genome
Parevania sp. ZJUH_2016024 mitochondrion, partial genome
gi|1534886177|gb|MG923505.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001556422	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 27, 2022)	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

SCV001556422

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 27, 2022)

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 Invitae, SCV001556422.4

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

Description

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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1052340). This variant has not been reported in the literature in individuals affected with CASR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 44 of the CASR protein (p.Val44Ile).

#	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 16, 2024

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