2-97250149-G-GC

Variant names:

• chr2-97250149-G-GC
• rs752428198
• NM_001354587.1:c.5731dupC

Variant summary

Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP6

The NM_001354587.1(ANKRD36):​c.5731dupC​(p.Gln1911ProfsTer4) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (no stars).

• Frequency: Genomes: not found (cov: 16)
• Consequence: ANKRD36 NM_001354587.1 frameshift
• Clinical Significance: Benign no assertion criteria provided B:1
• Conservation: PhyloP100: -0.190

Genes affected

ANKRD36 (HGNC:24079): (ankyrin repeat domain 36)

ACMG classification

Verdict is Likely_benign. Variant got -1 ACMG points.

• BP6: Variant 2-97250149-G-GC is Benign according to our data. Variant chr2-97250149-G-GC is described in ClinVar as [Benign]. Clinvar id is 1320036.Status of the report is no_assertion_criteria_provided, 0 stars.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ANKRD36	NM_001354587.1	c.5731dupC	p.Gln1911ProfsTer4	frameshift_variant	Exon 75 of 76	ENST00000420699.9	NP_001341516.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ANKRD36	ENST00000420699.9	c.5731dupC	p.Gln1911ProfsTer4	frameshift_variant	Exon 75 of 76	5	NM_001354587.1	ENSP00000391950.4
ANKRD36	ENST00000461153.7	c.5731dupC	p.Gln1911ProfsTer4	frameshift_variant	Exon 75 of 75	5		ENSP00000419530.3
ANKRD36	ENST00000652721.1	c.5731dupC	p.Gln1911ProfsTer4	frameshift_variant	Exon 75 of 76			ENSP00000498611.1
ANKRD36	ENST00000494336.1	n.1134dupC		non_coding_transcript_exon_variant	Exon 4 of 4	5

Frequencies

GnomAD3 genomes Cov.: 16

GnomAD4 exome Cov.: 6

GnomAD4 genome Cov.: 16

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: no assertion criteria provided

Submissions by phenotype

Oligosynaptic infertility;C1856738:Acromesomelic dysplasia 2B Benign:1

-

Dept of Molecular Biology and Genetics, Bogazici University

Significance: Benign

Review Status: no assertion criteria provided

Collection Method: research

- -

Computational scores

Source: dbNSFP v4.3

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.060		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs752428198; hg19: chr2-97915886;