rs140694718

Variant names:

• chr11-45650764-C-G
• rs140694718
• NM_003654.6:c.160G>C

Your query was ambiguous. Multiple possible variants found:

• chr11-45650764-C-G
• chr11-45650764-C-T

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_003654.6(CHST1):​c.160G>C​(p.Ala54Pro) variant causes a missense 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. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A54T) has been classified as Uncertain significance.

• Frequency: Genomes: not found (cov: 33)
• Consequence: CHST1 NM_003654.6 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.613

Genes affected

CHST1 (HGNC:1969): (carbohydrate sulfotransferase 1) This locus encodes a member of the keratin sulfotransferase family of proteins. The encoded enzyme catalyzes the sulfation of the proteoglycan keratin. [provided by RefSeq, Aug 2011]

ACMG classification

Verdict is Likely_benign. Variant got -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.04239285).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CHST1	NM_003654.6	c.160G>C	p.Ala54Pro	missense_variant	Exon 4 of 4	ENST00000308064.7	NP_003645.1
CHST1	XM_006718356.5	c.160G>C	p.Ala54Pro	missense_variant	Exon 4 of 5		XP_006718419.1
CHST1	XM_017018459.3	c.160G>C	p.Ala54Pro	missense_variant	Exon 4 of 5		XP_016873948.1
CHST1	XM_047427781.1	c.160G>C	p.Ala54Pro	missense_variant	Exon 4 of 4		XP_047283737.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CHST1	ENST00000308064.7	c.160G>C	p.Ala54Pro	missense_variant	Exon 4 of 4	1	NM_003654.6	ENSP00000309270.2

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome Cov.: 35

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.065
BayesDel_addAF	Benign	-0.043	T
BayesDel_noAF	Benign	-0.30
CADD	Benign	1.8
DANN	Benign	0.90
DEOGEN2	Benign	0.22	T
Eigen	Benign	-1.3
Eigen_PC	Benign	-1.2
FATHMM_MKL	Benign	0.21	N
LIST_S2	Benign	0.67	T
M_CAP	Uncertain	0.14	D
MetaRNN	Benign	0.042	T
MetaSVM	Benign	-0.39	T
PrimateAI	Benign	0.43	T
PROVEAN	Benign	1.0	N
REVEL	Benign	0.21
Sift	Benign	0.30	T
Sift4G	Benign	0.43	T
Polyphen		0.0	B
Vest4		0.031
MutPred		0.39		Gain of glycosylation at A54 (P = 0.0232);
MVP		0.31
MPC		1.2
ClinPred		0.038	T
GERP RS		-6.2
Varity_R		0.030
gMVP		0.64

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: rs140694718; hg19: chr11-45672314;