ANKRD36C p.Ser2034Ser

Variant names:

• chr2-95853777-G-G
• NM_001393982.1:c.

Your query was ambiguous. Multiple possible variants found:

• chr2-95853778--
• chr2-95853778-C-A
• chr2-95853778-C-G
• chr2-95853778-C-T
• chr2-95853778-CGA-ACT
• chr2-95853778-CGA-GCT

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The NM_001393982.1(ANKRD36C):​c. variant causes a exon region 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: 30)
• Consequence: ANKRD36C NM_001393982.1 exon_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.444
• Publications: 0 publications found

Genes affected

ANKRD36C (HGNC:32946): (ankyrin repeat domain 36C)

ENSG00000290897 (HGNC:):

ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001393982.1. 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
	ANKRD36C	NM_001393982.1	MANE Select	c.		exon_region	Exon 84 of 88	NP_001380911.1	A0A8J8YUB5
	ANKRD36C	NM_001310154.3		c.		exon_region	Exon 85 of 89	NP_001297083.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ANKRD36C	ENST00000295246.7	TSL:5 MANE Select	c.		exon_region	Exon 84 of 88	ENSP00000295246.7	A0A8J8YUB5
	ANKRD36C	ENST00000612359.5	TSL:1	c.		exon_region	Exon 2 of 6	ENSP00000485004.2
	ANKRD36C	ENST00000488721.5	TSL:1	n.		exon_region	Exon 4 of 4

Frequencies

GnomAD3 genomes Cov.: 30

GnomAD4 exome Cov.: 30

GnomAD4 genome Cov.: 30

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.44

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

hg19: chr2-96519525;