7-85055645-CATATATATATATATATATATATATATATAT-CATATATATATATAT

Position:

• chr7-85055645-CATATATATATATATATATATATATATATAT-CATATATATATATAT

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

The NM_001384900.1(SEMA3D):​c.861+56_861+71delATATATATATATATAT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.328 in 159,976 control chromosomes in the GnomAD database, including 6,714 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.28 (4039 hom., cov: 0)
  • Exomes 𝑓: 0.45 (2675 hom.)
• Consequence: SEMA3D NM_001384900.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.718

Genes affected

SEMA3D (HGNC:10726): (semaphorin 3D) This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin like domain and a C-terminal basic domain. The protein encoded by this gene binds neuropilin and plays an important role in cardiovascular development. [provided by RefSeq, Aug 2016]

SEMA3D (HGNC:):

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.324 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SEMA3D	NM_001384900.1	c.861+56_861+71delATATATATATATATAT		intron_variant		ENST00000284136.11	NP_001371829.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SEMA3D	ENST00000284136.11	c.861+56_861+71delATATATATATATATAT		intron_variant		5	NM_001384900.1	ENSP00000284136.6
SEMA3D	ENST00000444867.1	c.861+56_861+71delATATATATATATATAT		intron_variant		1		ENSP00000401366.1
SEMA3D	ENST00000463315.1	n.49+56_49+71delATATATATATATATAT		intron_variant		2

Frequencies

GnomAD3 genomes AF: 0.276 AC: 30832 AN: 111886 Hom.: 4040 Cov.: 0

Gnomad AFR AF: 0.199

Gnomad AMI AF: 0.338

Gnomad AMR AF: 0.257

Gnomad ASJ AF: 0.260

Gnomad EAS AF: 0.0892

Gnomad SAS AF: 0.197

Gnomad FIN AF: 0.384

Gnomad MID AF: 0.338

Gnomad NFE AF: 0.328

Gnomad OTH AF: 0.302

GnomAD4 exome AF: 0.451 AC: 21697 AN: 48088 Hom.: 2675 AF XY: 0.434 AC XY: 12062 AN XY: 27762

Gnomad4 AFR exome AF: 0.315

Gnomad4 AMR exome AF: 0.335

Gnomad4 ASJ exome AF: 0.423

Gnomad4 EAS exome AF: 0.159

Gnomad4 SAS exome AF: 0.376

Gnomad4 FIN exome AF: 0.408

Gnomad4 NFE exome AF: 0.468

Gnomad4 OTH exome AF: 0.418

GnomAD4 genome AF: 0.276 AC: 30831 AN: 111888 Hom.: 4039 Cov.: 0 AF XY: 0.278 AC XY: 14437 AN XY: 51972

Gnomad4 AFR AF: 0.199

Gnomad4 AMR AF: 0.256

Gnomad4 ASJ AF: 0.260

Gnomad4 EAS AF: 0.0894

Gnomad4 SAS AF: 0.197

Gnomad4 FIN AF: 0.384

Gnomad4 NFE AF: 0.328

Gnomad4 OTH AF: 0.299

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs56131427; hg19: chr7-84684961;