ENST00000445828.5:c.561+4462A>G

Variant names:

• chr10-27001162-C-.
• ENST00000445828.5:c.561+4461G>.

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The ENST00000445828.5(ANKRD26):​c.561+4461G>. variant causes a intron change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 N/A (N/A hom., cov:)
  • Exomes 𝑓: N/A (N/A hom.)
• Consequence: ANKRD26 ENST00000445828.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: No publications found

Genes affected

ANKRD26 (HGNC:29186): (ankyrin repeat domain containing 26) This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

ANKRD26 Gene-Disease associations (from GenCC):

• thrombocytopenia 2

  Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: ClinGen, Ambry Genetics, G2P, Labcorp Genetics (formerly Invitae)
• acute myeloid leukemia

  Inheritance: AD Classification: STRONG Submitted by: Genomics England PanelApp
• autosomal thrombocytopenia with normal platelets

  Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
• hereditary thrombocytopenia and hematologic cancer predisposition syndrome

  Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ANKRD26	XM_017015928.2	c.6085+5755G>.		intron_variant	Intron 34 of 39		XP_016871417.1
ANKRD26	XM_047424821.1	c.6085+5755G>.		intron_variant	Intron 34 of 40		XP_047280777.1
ANKRD26	XM_047424822.1	c.6085+5755G>.		intron_variant	Intron 34 of 35		XP_047280778.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ANKRD26	ENST00000445828.5	c.561+4461G>.		intron_variant	Intron 4 of 5	5		ENSP00000394152.1
ANKRD26	ENST00000674670.1	n.487+5755G>.		intron_variant	Intron 3 of 5			ENSP00000502448.1
ANKRD26	ENST00000675439.1	n.322+5755G>.		intron_variant	Intron 3 of 5			ENSP00000502237.1
ANKRD26	ENST00000675936.1	n.1521+4455G>.		intron_variant	Intron 11 of 12			ENSP00000502093.1

Frequencies

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

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

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

Other links and lift over

hg19: chr10-27290091;