2-97250149-G-GC

Variant names:

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

Variant summary

Our verdict is Likely benign. The variant received -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
• Publications: 1 publications found

Genes affected

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

ACMG classification

Our verdict: Likely_benign. The variant received -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 VariationId is 1320036.Status of the report is no_assertion_criteria_provided, 0 stars.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001354587.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ANKRD36	NM_001354587.1	MANE Select	c.5731dupC	p.Gln1911ProfsTer4	frameshift	Exon 75 of 76	NP_001341516.1	A6QL64-1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ANKRD36	ENST00000420699.9	TSL:5 MANE Select	c.5731dupC	p.Gln1911ProfsTer4	frameshift	Exon 75 of 76	ENSP00000391950.4	A6QL64-1
	ANKRD36	ENST00000461153.7	TSL:5	c.5731dupC	p.Gln1911ProfsTer4	frameshift	Exon 75 of 75	ENSP00000419530.3	A6QL64-1
	ANKRD36	ENST00000652721.1		c.5731dupC	p.Gln1911ProfsTer4	frameshift	Exon 75 of 76	ENSP00000498611.1	A6QL64-1

Frequencies

GnomAD3 genomes Cov.: 16

GnomAD4 exome Cov.: 6

GnomAD4 genome Cov.: 16

ClinVar

ClinVar submissions

Significance: Benign

Revision: no assertion criteria provided

Pathogenic	VUS	Benign	Condition
-	-	1	Oligosynaptic infertility;C1856738:Acromesomelic dysplasia 2B (1)

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.19
Mutation Taster		=170/30	polymorphism

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

Other links and lift over

dbSNP: rs752428198; hg19: chr2-97915886; COSMIC: COSV63817745; COSMIC: COSV63817745;