7-85055645-CATATATATATATATATATATATATATATAT-CATATATATATATATATATATATATATATATATATATATATAT

Position:

• chr7-85055645-CATATATATATATATATATATATATATATAT-CATATATATATATATATATATATATATATATATATATATATAT

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_001384900.1(SEMA3D):​c.861+60_861+71dupATATATATATAT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000332 in 159,794 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.00046 (0 hom., cov: 0)
  • Exomes 𝑓: 0.000042 (0 hom.)
• Consequence: SEMA3D NM_001384900.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00

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 Uncertain_significance. Variant got 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SEMA3D	NM_001384900.1	c.861+60_861+71dupATATATATATAT		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+60_861+71dupATATATATATAT		intron_variant		5	NM_001384900.1	ENSP00000284136.6
SEMA3D	ENST00000444867.1	c.861+60_861+71dupATATATATATAT		intron_variant		1		ENSP00000401366.1
SEMA3D	ENST00000463315.1	n.49+60_49+71dupATATATATATAT		intron_variant		2

Frequencies

GnomAD3 genomes AF: 0.000457 AC: 51 AN: 111620 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.000165

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000940

Gnomad ASJ AF: 0.000339

Gnomad EAS AF: 0.00138

Gnomad SAS AF: 0.000999

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000482

Gnomad OTH AF: 0.000688

GnomAD4 exome AF: 0.0000415 AC: 2 AN: 48172 Hom.: 0 AF XY: 0.0000360 AC XY: 1 AN XY: 27812

Gnomad4 AFR exome AF: 0.00

Gnomad4 AMR exome AF: 0.00

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.00

Gnomad4 SAS exome AF: 0.00

Gnomad4 FIN exome AF: 0.000792

Gnomad4 NFE exome AF: 0.0000246

Gnomad4 OTH exome AF: 0.00

GnomAD4 genome AF: 0.000457 AC: 51 AN: 111622 Hom.: 0 Cov.: 0 AF XY: 0.000502 AC XY: 26 AN XY: 51816

Gnomad4 AFR AF: 0.000165

Gnomad4 AMR AF: 0.000940

Gnomad4 ASJ AF: 0.000339

Gnomad4 EAS AF: 0.00139

Gnomad4 SAS AF: 0.00100

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.000482

Gnomad4 OTH AF: 0.000682

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;