NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 20, 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:: RCV001309963.7

Allele description [Variation Report for NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup)]

NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

3q21.1

Genomic location:

Preferred name:

NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup)

HGVS:

NC_000003.12:g.122284758_122284790dup
NG_009058.2:g.106091_106123dup
NM_000388.4:c.2804_2836dupMANE SELECT
NM_001178065.2:c.2834_2866dup
NP_000379.3:p.Pro935_Gln945dup
NP_001171536.2:p.Pro945_Gln955dup
NC_000003.11:g.122003592_122003593insAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAG
NC_000003.11:g.122003605_122003637dup
NG_009058.1:g.106076_106108dup
NM_000388.3:c.2804_2836dupCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGC
NM_000388.4:c.2804_2836dup

Links:

dbSNP: rs2074946020

NCBI 1000 Genomes Browser:

rs2074946020

Molecular consequence:

NM_000388.4:c.2804_2836dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001178065.2:c.2834_2866dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV001499479	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 20, 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

SCV001499479

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 20, 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, SCV001499479.4

#	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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1012068). 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 variant, c.2804_2836dup, results in the insertion of 11 amino acid(s) of the CASR protein (p.Pro935_Gln945dup), but otherwise preserves the integrity of the reading frame.

#	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: Oct 13, 2024

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