rs71174721

Variant names:

• chr19-20624371-G-GAAATTGTAGAATTTCTCTCCAGTATGA
• rs35575803
• NM_001076675.3:c.1505_1506insTCATACTGGAGAGAAATTCTACAATTT

Your query was ambiguous. Multiple possible variants found:

• chr19-20624371-G-GAAATTGTAGAATTTCTCTCCAGTATGA
• chr19-20624371-G-GA

Variant summary

Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2 PM4

The NM_001076675.3(ZNF626):​c.1505_1506insTCATACTGGAGAGAAATTCTACAATTT​(p.Ile502_Ile503insHisThrGlyGluLysPheTyrAsnPhe) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 0)
• Consequence: ZNF626 NM_001076675.3 disruptive_inframe_insertion
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.525

Genes affected

ZNF626 (HGNC:30461): (zinc finger protein 626) Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ENSG00000269110 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 4 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• PM4: Nonframeshift variant in NON repetitive region in NM_001076675.3.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ZNF626	NM_001076675.3	c.1505_1506insTCATACTGGAGAGAAATTCTACAATTT	p.Ile502_Ile503insHisThrGlyGluLysPheTyrAsnPhe	disruptive_inframe_insertion	Exon 4 of 4	ENST00000601440.6	NP_001070143.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ZNF626	ENST00000601440.6	c.1505_1506insTCATACTGGAGAGAAATTCTACAATTT	p.Ile502_Ile503insHisThrGlyGluLysPheTyrAsnPhe	disruptive_inframe_insertion	Exon 4 of 4	4	NM_001076675.3	ENSP00000469958.1
ENSG00000269110	ENST00000595094.1	n.363+21312_363+21313insTCATACTGGAGAGAAATTCTACAATTT		intron_variant	Intron 3 of 4	5

Frequencies

GnomAD3 genomes Cov.: 0

GnomAD4 exome Cov.: 27

GnomAD4 genome Cov.: 0

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: rs35575803; hg19: chr19-20807177;