rs1012161417

Variant names:

• chr14-73478819-A-G
• rs1012161417
• NM_001220484.1:c.2868T>C

Your query was ambiguous. Multiple possible variants found:

• chr14-73478819-A-G
• chr14-73478819-A-T

Variant summary

Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2 BP4_Strong BP7

The NM_001220484.1(HEATR4):​c.2868T>C​(p.Asn956Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 31)
• Consequence: HEATR4 NM_001220484.1 synonymous
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.41

Genes affected

HEATR4 (HGNC:16761): (HEAT repeat containing 4) Predicted to enable oxidoreductase activity. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Likely_benign. Variant got -3 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.52).
• BP7: Synonymous conserved (PhyloP=2.41 with no splicing effect.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
HEATR4	NM_001220484.1	c.2868T>C	p.Asn956Asn	synonymous_variant	Exon 18 of 18	ENST00000553558.6	NP_001207413.1
HEATR4	NM_203309.2	c.2868T>C	p.Asn956Asn	synonymous_variant	Exon 17 of 17		NP_976054.2
HEATR4	XM_047431370.1	c.2868T>C	p.Asn956Asn	synonymous_variant	Exon 17 of 17		XP_047287326.1
HEATR4	XM_047431371.1	c.1599T>C	p.Asn533Asn	synonymous_variant	Exon 15 of 15		XP_047287327.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
HEATR4	ENST00000553558.6	c.2868T>C	p.Asn956Asn	synonymous_variant	Exon 18 of 18	2	NM_001220484.1	ENSP00000450444.2
HEATR4	ENST00000334988.2	c.2868T>C	p.Asn956Asn	synonymous_variant	Exon 17 of 17	1		ENSP00000335447.2
HEATR4	ENST00000565094.1	n.49T>C		non_coding_transcript_exon_variant	Exon 2 of 2	5
HEATR4	ENST00000566478.1	n.75T>C		non_coding_transcript_exon_variant	Exon 2 of 2	5

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Cov.: 31

GnomAD4 genome Cov.: 31

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.52
CADD	Benign	8.9
DANN	Benign	0.84

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		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: rs1012161417; hg19: chr14-73945524;