17-9918301-T-G

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.1219-202A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.84 in 151,892 control chromosomes in the GnomAD database, including 53,791 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.84 (53791 hom., cov: 33)
• Consequence: GAS7 NM_201433.2 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.263

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=-0.9).
• BP6: Variant 17-9918301-T-G is Benign according to our data. Variant chr17-9918301-T-G is described in ClinVar as [Benign]. Clinvar id is 1220556.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.912 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
GAS7	NM_201433.2	c.1219-202A>C		intron_variant		ENST00000432992.7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
GAS7	ENST00000432992.7	c.1219-202A>C		intron_variant		1	NM_201433.2	P1

Frequencies

GnomAD3 genomes AF: 0.840 AC: 127418 AN: 151772 Hom.: 53733 Cov.: 33

Gnomad AFR AF: 0.919

Gnomad AMI AF: 0.835

Gnomad AMR AF: 0.810

Gnomad ASJ AF: 0.811

Gnomad EAS AF: 0.853

Gnomad SAS AF: 0.796

Gnomad FIN AF: 0.813

Gnomad MID AF: 0.863

Gnomad NFE AF: 0.806

Gnomad OTH AF: 0.825

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

GnomAD4 genome AF: 0.840 AC: 127533 AN: 151892 Hom.: 53791 Cov.: 33 AF XY: 0.837 AC XY: 62117 AN XY: 74224

Gnomad4 AFR AF: 0.920

Gnomad4 AMR AF: 0.810

Gnomad4 ASJ AF: 0.811

Gnomad4 EAS AF: 0.853

Gnomad4 SAS AF: 0.794

Gnomad4 FIN AF: 0.813

Gnomad4 NFE AF: 0.806

Gnomad4 OTH AF: 0.827

Alfa AF: 0.722 Hom.: 2292

Bravo AF: 0.844

Asia WGS AF: 0.841 AC: 2926 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 18, 2021

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
Cadd	Benign	2.6
Dann	Benign	0.29

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: rs55976773; hg19: chr17-9821618; COSMIC: COSV60435197;