NM_000388.4(CASR):c.2244_2245delinsCG (p.Ser749Ala) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 14, 2020
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:: RCV001969907.2

Allele description [Variation Report for NM_000388.4(CASR):c.2244_2245delinsCG (p.Ser749Ala)]

NM_000388.4(CASR):c.2244_2245delinsCG (p.Ser749Ala)

Gene:

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

Variant type:

Indel

Cytogenetic location:

3q21.1

Genomic location:

Preferred name:

NM_000388.4(CASR):c.2244_2245delinsCG (p.Ser749Ala)

HGVS:

NC_000003.12:g.122284198_122284199delinsCG
NG_009058.2:g.105531_105532delinsCG
NM_000388.4:c.2244_2245delinsCGMANE SELECT
NM_001178065.2:c.2274_2275delinsCG
NP_000379.3:p.Ser749Ala
NP_001171536.2:p.Ser759Ala
NC_000003.11:g.122003045_122003046delinsCG
NG_009058.1:g.105517T>G

Protein change:

S749A

Links:

dbSNP: rs2107650178

NCBI 1000 Genomes Browser:

rs2107650178

Molecular consequence:

NM_000388.4:c.2244_2245delinsCG - missense variant - [Sequence Ontology: SO:0001583]
NM_001178065.2:c.2274_2275delinsCG - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002226305	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 14, 2020)	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

SCV002226305

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 14, 2020)

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, SCV002226305.1

#	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 serine with alanine at codon 749 of the CASR protein (p.Ser749Ala). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and alanine. This variant is present in population databases (rs778597649, ExAC 0.001%). This variant has not been reported in the literature in individuals with CASR-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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