rs6834483

chr4-35981489-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000503225.5(ARAP2):n.1607+3741G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.973 in 152,272 control chromosomes in the GnomAD database, including 72,165 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.97 (72165 hom., cov: 32)
• Consequence: ARAP2 ENST00000503225.5 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.380

Genes affected

ARAP2 (HGNC:16924): (ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2) The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.977 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ARAP2	ENST00000503225.5	n.1607+3741G>A		intron_variant, non_coding_transcript_variant		1

Frequencies

GnomAD3 genomes AF: 0.973 AC: 148112 AN: 152154 Hom.: 72113 Cov.: 32

Gnomad AFR AF: 0.985

Gnomad AMI AF: 0.979

Gnomad AMR AF: 0.976

Gnomad ASJ AF: 0.978

Gnomad EAS AF: 0.946

Gnomad SAS AF: 0.962

Gnomad FIN AF: 0.990

Gnomad MID AF: 0.981

Gnomad NFE AF: 0.966

Gnomad OTH AF: 0.967

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

GnomAD4 genome AF: 0.973 AC: 148219 AN: 152272 Hom.: 72165 Cov.: 32 AF XY: 0.975 AC XY: 72548 AN XY: 74442

Gnomad4 AFR AF: 0.985

Gnomad4 AMR AF: 0.977

Gnomad4 ASJ AF: 0.978

Gnomad4 EAS AF: 0.947

Gnomad4 SAS AF: 0.962

Gnomad4 FIN AF: 0.990

Gnomad4 NFE AF: 0.966

Gnomad4 OTH AF: 0.959

Alfa AF: 0.966 Hom.: 66577

Bravo AF: 0.973

Asia WGS AF: 0.923 AC: 3208 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
Cadd	Benign	0.49
Dann	Benign	0.38

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6834483; hg19: chr4-35983111;