rs797820

Positions:

• chr7-83979723-G-A
• chr7-83979723-G-C

Variant summary

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

The NM_006080.3(SEMA3A):​c.1652+1598C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.798 in 152,110 control chromosomes in the GnomAD database, including 49,213 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 0.80 (49213 hom., cov: 32)
• Consequence: SEMA3A NM_006080.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.227

Genes affected

SEMA3A (HGNC:10723): (semaphorin 3A) This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer's disease. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.937 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SEMA3A	NM_006080.3	c.1652+1598C>T		intron_variant		ENST00000265362.9	NP_006071.1
SEMA3A	XM_005250110.4	c.1652+1598C>T		intron_variant			XP_005250167.1
SEMA3A	XM_047419751.1	c.1652+1598C>T		intron_variant			XP_047275707.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SEMA3A	ENST00000265362.9	c.1652+1598C>T		intron_variant		1	NM_006080.3	ENSP00000265362.3
SEMA3A	ENST00000436949.5	c.1652+1598C>T		intron_variant		5		ENSP00000415260.1

Frequencies

GnomAD3 genomes AF: 0.797 AC: 121207 AN: 151990 Hom.: 49150 Cov.: 32

Gnomad AFR AF: 0.945

Gnomad AMI AF: 0.761

Gnomad AMR AF: 0.768

Gnomad ASJ AF: 0.721

Gnomad EAS AF: 0.886

Gnomad SAS AF: 0.733

Gnomad FIN AF: 0.648

Gnomad MID AF: 0.709

Gnomad NFE AF: 0.740

Gnomad OTH AF: 0.797

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

GnomAD4 genome AF: 0.798 AC: 121332 AN: 152110 Hom.: 49213 Cov.: 32 AF XY: 0.790 AC XY: 58743 AN XY: 74354

Gnomad4 AFR AF: 0.945

Gnomad4 AMR AF: 0.768

Gnomad4 ASJ AF: 0.721

Gnomad4 EAS AF: 0.886

Gnomad4 SAS AF: 0.733

Gnomad4 FIN AF: 0.648

Gnomad4 NFE AF: 0.740

Gnomad4 OTH AF: 0.799

Alfa AF: 0.740 Hom.: 11978

Bravo AF: 0.817

Asia WGS AF: 0.837 AC: 2892 AN: 3456

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.73
DANN	Benign	0.75

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: rs797820; hg19: chr7-83609039;