7-93434594-G-GAA

Position:

• chr7-93434594-G-GAA

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_Moderate BA1

The NM_001742.4(CALCR):​c.1150-301_1150-300insTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.196 in 146,826 control chromosomes in the GnomAD database, including 3,043 homozygotes. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.20 (3043 hom., cov: 22)
• Consequence: CALCR NM_001742.4 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: 0.868

Genes affected

CALCR (HGNC:1440): (calcitonin receptor) This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP6: Variant 7-93434594-G-GAA is Benign according to our data. Variant chr7-93434594-G-GAA is described in ClinVar as [Benign]. Clinvar id is 1222864.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.375 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
CALCR	NM_001742.4	c.1150-301_1150-300insTT		intron_variant		ENST00000426151.7	NP_001733.1
CALCR	NM_001164737.3	c.1198-301_1198-300insTT		intron_variant			NP_001158209.2
CALCR	NM_001164738.2	c.1150-301_1150-300insTT		intron_variant			NP_001158210.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CALCR	ENST00000426151.7	c.1150-301_1150-300insTT		intron_variant		1	NM_001742.4	ENSP00000389295	P1

Frequencies

GnomAD3 genomes AF: 0.196 AC: 28809 AN: 146766 Hom.: 3042 Cov.: 22

Gnomad AFR AF: 0.136

Gnomad AMI AF: 0.107

Gnomad AMR AF: 0.280

Gnomad ASJ AF: 0.157

Gnomad EAS AF: 0.388

Gnomad SAS AF: 0.255

Gnomad FIN AF: 0.223

Gnomad MID AF: 0.180

Gnomad NFE AF: 0.194

Gnomad OTH AF: 0.208

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.196 AC: 28822 AN: 146826 Hom.: 3043 Cov.: 22 AF XY: 0.202 AC XY: 14397 AN XY: 71388

Gnomad4 AFR AF: 0.136

Gnomad4 AMR AF: 0.280

Gnomad4 ASJ AF: 0.157

Gnomad4 EAS AF: 0.389

Gnomad4 SAS AF: 0.254

Gnomad4 FIN AF: 0.223

Gnomad4 NFE AF: 0.194

Gnomad4 OTH AF: 0.210

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

Jun 18, 2021

- -

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs74532696; hg19: chr7-93063906;