7-93434532-A-T

Variant summary

Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_Strong BP6_Moderate BA1

The NM_001742.4(CALCR):c.1150-238T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.692 in 151,848 control chromosomes in the GnomAD database, including 37,368 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.69 (37368 hom., cov: 31)
• Consequence: CALCR NM_001742.4 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.395

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 -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BP6: Variant 7-93434532-A-T is Benign according to our data. Variant chr7-93434532-A-T is described in ClinVar as [Benign]. Clinvar id is 1250902.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.865 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
CALCR	NM_001742.4	c.1150-238T>A		intron_variant		ENST00000426151.7
CALCR	NM_001164737.3	c.1198-238T>A		intron_variant
CALCR	NM_001164738.2	c.1150-238T>A		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
CALCR	ENST00000426151.7	c.1150-238T>A		intron_variant		1	NM_001742.4	P1

Frequencies

GnomAD3 genomes AF: 0.692 AC: 105010 AN: 151732 Hom.: 37322 Cov.: 31

Gnomad AFR AF: 0.818

Gnomad AMI AF: 0.525

Gnomad AMR AF: 0.764

Gnomad ASJ AF: 0.705

Gnomad EAS AF: 0.886

Gnomad SAS AF: 0.723

Gnomad FIN AF: 0.497

Gnomad MID AF: 0.750

Gnomad NFE AF: 0.613

Gnomad OTH AF: 0.719

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

GnomAD4 genome AF: 0.692 AC: 105116 AN: 151848 Hom.: 37368 Cov.: 31 AF XY: 0.691 AC XY: 51230 AN XY: 74148

Gnomad4 AFR AF: 0.818

Gnomad4 AMR AF: 0.764

Gnomad4 ASJ AF: 0.705

Gnomad4 EAS AF: 0.886

Gnomad4 SAS AF: 0.722

Gnomad4 FIN AF: 0.497

Gnomad4 NFE AF: 0.613

Gnomad4 OTH AF: 0.723

Alfa AF: 0.635 Hom.: 3893

Bravo AF: 0.721

Asia WGS AF: 0.856 AC: 2973 AN: 3474

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

Nov 10, 2018

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	1.1
Dann	Benign	0.62

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs7790825; hg19: chr7-93063844;