17-9917514-C-A

Position:

• chr17-9917514-C-A

Variant summary

Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_Strong BP6_Very_Strong BA1

The NM_201433.2(GAS7):​c.1318-173G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0842 in 152,168 control chromosomes in the GnomAD database, including 1,091 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

• Frequency: Genomes: 𝑓 0.084 (1091 hom., cov: 34)
• Consequence: GAS7 NM_201433.2 intron
• Clinical Significance: Benign criteria provided, multiple submitters, no conflicts B:2
• Conservation: PhyloP100: -1.10

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]

GAS7 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -20 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BP6: Variant 17-9917514-C-A is Benign according to our data. Variant chr17-9917514-C-A is described in ClinVar as [Benign]. Clinvar id is 1295084.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.217 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
GAS7	NM_201433.2	c.1318-173G>T		intron_variant		ENST00000432992.7	NP_958839.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
GAS7	ENST00000432992.7	c.1318-173G>T		intron_variant		1	NM_201433.2	ENSP00000407552.2

Frequencies

GnomAD3 genomes AF: 0.0841 AC: 12785 AN: 152050 Hom.: 1086 Cov.: 34

Gnomad AFR AF: 0.221

Gnomad AMI AF: 0.0296

Gnomad AMR AF: 0.0440

Gnomad ASJ AF: 0.0167

Gnomad EAS AF: 0.0209

Gnomad SAS AF: 0.0224

Gnomad FIN AF: 0.0272

Gnomad MID AF: 0.0348

Gnomad NFE AF: 0.0332

Gnomad OTH AF: 0.0569

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

GnomAD4 genome AF: 0.0842 AC: 12815 AN: 152168 Hom.: 1091 Cov.: 34 AF XY: 0.0808 AC XY: 6008 AN XY: 74376

Gnomad4 AFR AF: 0.221

Gnomad4 AMR AF: 0.0439

Gnomad4 ASJ AF: 0.0167

Gnomad4 EAS AF: 0.0209

Gnomad4 SAS AF: 0.0224

Gnomad4 FIN AF: 0.0272

Gnomad4 NFE AF: 0.0332

Gnomad4 OTH AF: 0.0559

Alfa AF: 0.0307 Hom.: 38

Bravo AF: 0.0903

Asia WGS AF: 0.0280 AC: 101 AN: 3478

ClinVar

Significance: Benign

Submissions summary: Benign:2

Revision: criteria provided, multiple submitters, no conflicts

Submissions by phenotype

not provided Benign:2

Benign, criteria provided, single submitter	not provided	Breakthrough Genomics, Breakthrough Genomics	-	- -
Benign, criteria provided, single submitter	clinical testing	GeneDx	Jun 19, 2021	- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.14
DANN	Benign	0.75

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.010		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: rs16958993; hg19: chr17-9820831;