rs914850486

Variant names:

• chr17-57979243-T-TTGTTGC
• rs914850486
• NM_007146.3:c.1046_1047insGCAACA

Your query was ambiguous. Multiple possible variants found:

• chr17-57979243-T-TTGTTGC
• chr17-57979243-T-TTGTTGCTGC
• chr17-57979243-T-TTGTTGCTGCTGC
• chr17-57979243-T-TTGTTGCTGCTGCTGCTGC
• chr17-57979243-T-TTGTTGTTGC
• chr17-57979243-T-TTGTTGTTGCTGCTGCTGC
• chr17-57979243-T-TTGTTGTTGTTGCTGC

Variant summary

Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP3 BS2

The NM_007146.3(VEZF1):​c.1046_1047insGCAACA​(p.Gln348_Gln349dup) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000352 in 1,597,050 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 0.00051 (0 hom., cov: 28)
  • Exomes 𝑓: 0.00034 (0 hom.)
• Consequence: VEZF1 NM_007146.3 disruptive_inframe_insertion
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.405

Genes affected

VEZF1 (HGNC:12949): (vascular endothelial zinc finger 1) Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. ZNF161 is a C2H2-type zinc finger protein (Koyano-Nakagawa et al., 1994 [PubMed 8035792]). See MIM 603971 for general information on zinc finger proteins.[supplied by OMIM, Sep 2008]

ACMG classification

Verdict is Likely_benign. Variant got -5 ACMG points.

• BP3: Nonframeshift variant in repetitive region in NM_007146.3
• BS2: High AC in GnomAd4 at 77 AD gene.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
VEZF1	NM_007146.3	c.1046_1047insGCAACA	p.Gln348_Gln349dup	disruptive_inframe_insertion	Exon 5 of 6	ENST00000581208.2	NP_009077.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
VEZF1	ENST00000581208.2	c.1046_1047insGCAACA	p.Gln348_Gln349dup	disruptive_inframe_insertion	Exon 5 of 6	1	NM_007146.3	ENSP00000462337.1
VEZF1	ENST00000258963.7	c.500_501insGCAACA	p.Gln166_Gln167dup	disruptive_inframe_insertion	Exon 4 of 5	1		ENSP00000258963.3
VEZF1	ENST00000584396.5	c.1019_1020insGCAACA	p.Gln339_Gln340dup	disruptive_inframe_insertion	Exon 5 of 6	5		ENSP00000464687.1

Frequencies

GnomAD3 genomes AF: 0.000511 AC: 77 AN: 150648 Hom.: 0 Cov.: 28

Gnomad AFR AF: 0.00101

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000331

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.000193

Gnomad SAS AF: 0.000210

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000399

Gnomad OTH AF: 0.000969

GnomAD4 exome AF: 0.000335 AC: 485 AN: 1446290 Hom.: 0 Cov.: 32 AF XY: 0.000311 AC XY: 224 AN XY: 719510

Gnomad4 AFR exome AF: 0.00103

Gnomad4 AMR exome AF: 0.000158

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.000712

Gnomad4 SAS exome AF: 0.000259

Gnomad4 FIN exome AF: 0.0000950

Gnomad4 NFE exome AF: 0.000319

Gnomad4 OTH exome AF: 0.000587

GnomAD4 genome AF: 0.000511 AC: 77 AN: 150760 Hom.: 0 Cov.: 28 AF XY: 0.000529 AC XY: 39 AN XY: 73668

Gnomad4 AFR AF: 0.00100

Gnomad4 AMR AF: 0.000330

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.000194

Gnomad4 SAS AF: 0.000210

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.000399

Gnomad4 OTH AF: 0.000959

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: rs914850486; hg19: chr17-56056604;