rs2901331

Variant names:

• chr2-124570373-G-A
• rs2901331
• NM_001367498.1:c.1756+7050G>A

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001367498.1(CNTNAP5):​c.1756+7050G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.303 in 151,918 control chromosomes in the GnomAD database, including 7,211 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 0.30 (7211 hom., cov: 32)
• Consequence: CNTNAP5 NM_001367498.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.309
• Publications: 9 publications found

Genes affected

CNTNAP5 (HGNC:18748): (contactin associated protein family member 5) This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.342 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CNTNAP5	NM_001367498.1	c.1756+7050G>A		intron_variant	Intron 11 of 23	ENST00000682447.1	NP_001354427.1
CNTNAP5	NM_130773.4	c.1753+7050G>A		intron_variant	Intron 11 of 23		NP_570129.1
CNTNAP5	XM_017003316.2	c.1756+7050G>A		intron_variant	Intron 11 of 22		XP_016858805.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CNTNAP5	ENST00000682447.1	c.1756+7050G>A		intron_variant	Intron 11 of 23		NM_001367498.1	ENSP00000508115.1
CNTNAP5	ENST00000431078.1	c.1753+7050G>A		intron_variant	Intron 11 of 23	1		ENSP00000399013.1

Frequencies

GnomAD3 genomes AF: 0.303 AC: 45935 AN: 151800 Hom.: 7200 Cov.: 32

Gnomad AFR AF: 0.346

Gnomad AMI AF: 0.129

Gnomad AMR AF: 0.242

Gnomad ASJ AF: 0.268

Gnomad EAS AF: 0.0962

Gnomad SAS AF: 0.295

Gnomad FIN AF: 0.323

Gnomad MID AF: 0.345

Gnomad NFE AF: 0.308

Gnomad OTH AF: 0.272

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

GnomAD4 genome AF: 0.303 AC: 45979 AN: 151918 Hom.: 7211 Cov.: 32 AF XY: 0.300 AC XY: 22242 AN XY: 74254

African (AFR) AF: 0.346 AC: 14337 AN: 41406

American (AMR) AF: 0.242 AC: 3691 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.268 AC: 930 AN: 3464

East Asian (EAS) AF: 0.0960 AC: 494 AN: 5146

South Asian (SAS) AF: 0.296 AC: 1423 AN: 4808

European-Finnish (FIN) AF: 0.323 AC: 3406 AN: 10538

Middle Eastern (MID) AF: 0.347 AC: 102 AN: 294

European-Non Finnish (NFE) AF: 0.308 AC: 20911 AN: 67970

Other (OTH) AF: 0.269 AC: 568 AN: 2112

Alfa AF: 0.304 Hom.: 23686

Bravo AF: 0.297

Asia WGS AF: 0.182 AC: 637 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	0.76
DANN	Benign	0.71
PhyloP100		-0.31
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs2901331; hg19: chr2-125327950;