17-9918268-T-C

Variant summary

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

The NM_201433.2(GAS7):c.1219-169A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0917 in 145,528 control chromosomes in the GnomAD database, including 1,131 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.092 (1131 hom., cov: 33)
• Consequence: GAS7 NM_201433.2 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -2.88

Genes affected

GAS7 (HGNC:4169): (growth arrest specific 7) Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BP6: Variant 17-9918268-T-C is Benign according to our data. Variant chr17-9918268-T-C is described in ClinVar as [Benign]. Clinvar id is 1182682.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.234 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
GAS7	NM_201433.2	c.1219-169A>G		intron_variant		ENST00000432992.7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
GAS7	ENST00000432992.7	c.1219-169A>G		intron_variant		1	NM_201433.2	P1

Frequencies

GnomAD3 genomes AF: 0.0914 AC: 13296 AN: 145406 Hom.: 1123 Cov.: 33

Gnomad AFR AF: 0.238

Gnomad AMI AF: 0.0236

Gnomad AMR AF: 0.0472

Gnomad ASJ AF: 0.0158

Gnomad EAS AF: 0.00906

Gnomad SAS AF: 0.0646

Gnomad FIN AF: 0.0295

Gnomad MID AF: 0.0705

Gnomad NFE AF: 0.0372

Gnomad OTH AF: 0.0699

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

GnomAD4 genome AF: 0.0917 AC: 13339 AN: 145528 Hom.: 1131 Cov.: 33 AF XY: 0.0886 AC XY: 6280 AN XY: 70864

Gnomad4 AFR AF: 0.238

Gnomad4 AMR AF: 0.0471

Gnomad4 ASJ AF: 0.0158

Gnomad4 EAS AF: 0.00908

Gnomad4 SAS AF: 0.0651

Gnomad4 FIN AF: 0.0295

Gnomad4 NFE AF: 0.0372

Gnomad4 OTH AF: 0.0716

Alfa AF: 0.0478 Hom.: 98

Bravo AF: 0.0938

Asia WGS AF: 0.0490 AC: 172 AN: 3478

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 19, 2021

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Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
Cadd	Benign	0.0020
Dann	Benign	0.65

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: rs9916639; hg19: chr17-9821585; COSMIC: COSV60433155;