chr10-5878158-T-G

Variant names:

• chr10-5878158-T-G
• rs1052420
• NM_019046.3:c.1058A>C

Variant summary

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

The NM_019046.3(ANKRD16):​c.1058A>C​(p.Gln353Pro) variant causes a missense 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: 33)
• Consequence: ANKRD16 NM_019046.3 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0590
• Publications: 34 publications found

Genes affected

ANKRD16 (HGNC:23471): (ankyrin repeat domain 16) Predicted to be involved in tRNA modification. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

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

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

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ANKRD16	NM_019046.3	c.1058A>C	p.Gln353Pro	missense_variant	Exon 7 of 8	ENST00000380094.10	NP_061919.1
ANKRD16	NM_001009941.3	c.1058A>C	p.Gln353Pro	missense_variant	Exon 7 of 7		NP_001009941.1
ANKRD16	NM_001009943.3	c.*64A>C		3_prime_UTR_variant	Exon 6 of 6		NP_001009943.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ANKRD16	ENST00000380094.10	c.1058A>C	p.Gln353Pro	missense_variant	Exon 7 of 8	2	NM_019046.3	ENSP00000369436.4
ANKRD16	ENST00000380092.8	c.1058A>C	p.Gln353Pro	missense_variant	Exon 7 of 7	1		ENSP00000369434.4
ANKRD16	ENST00000191063.8	c.*64A>C		3_prime_UTR_variant	Exon 6 of 6	3		ENSP00000352361.6

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome Cov.: 56

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.061
BayesDel_addAF	Benign	-0.0069	T
BayesDel_noAF	Benign	-0.25
CADD	Benign	7.5
DANN	Uncertain	0.99
DEOGEN2	Benign	0.0039	T;T
Eigen	Benign	0.031
Eigen_PC	Benign	0.020
FATHMM_MKL	Uncertain	0.96	D
LIST_S2	Benign	0.39	.;T
M_CAP	Benign	0.079	D
MetaRNN	Uncertain	0.70	D;D
MetaSVM	Benign	-0.45	T
MutationAssessor	Uncertain	2.4	M;M
PhyloP100		-0.059
PrimateAI	Benign	0.23	T
PROVEAN	Benign	-2.3	N;N
REVEL	Uncertain	0.34
Sift	Uncertain	0.010	D;D
Sift4G	Uncertain	0.018	D;D
Polyphen		0.92	P;P
Vest4		0.38
MutPred		0.36		Gain of loop (P = 0.0045);Gain of loop (P = 0.0045);
MVP		0.78
MPC		0.57
ClinPred		0.94	D
GERP RS		3.8
Varity_R		0.31
gMVP		0.61
Mutation Taster		=80/20	polymorphism

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

Other links and lift over

dbSNP: rs1052420; hg19: chr10-5920121;