rs369071527

Variant names:

• chr3-146199914-C-A
• rs369071527
• NM_020353.3:c.523G>T

Your query was ambiguous. Multiple possible variants found:

• chr3-146199914-C-A
• chr3-146199914-C-T

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_020353.3(PLSCR4):​c.523G>T​(p.Val175Phe) 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V175I) has been classified as Uncertain significance.

• Frequency: Genomes: not found (cov: 32)
• Consequence: PLSCR4 NM_020353.3 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.55

Genes affected

PLSCR4 (HGNC:16497): (phospholipid scramblase 4) Enables CD4 receptor binding activity and enzyme binding activity. Predicted to be involved in plasma membrane phospholipid scrambling. Predicted to act upstream of or within cellular response to lipopolysaccharide. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Uncertain_significance. Variant got 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
PLSCR4	NM_020353.3	c.523G>T	p.Val175Phe	missense_variant	Exon 6 of 9	ENST00000354952.7	NP_065086.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
PLSCR4	ENST00000354952.7	c.523G>T	p.Val175Phe	missense_variant	Exon 6 of 9	1	NM_020353.3	ENSP00000347038.2

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 31

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Uncertain	0.37
BayesDel_addAF	Benign	-0.067	T
BayesDel_noAF	Benign	-0.33
CADD	Benign	23
DANN	Uncertain	1.0
DEOGEN2	Benign	0.018	T;T;T;T;.
Eigen	Benign	0.14
Eigen_PC	Benign	0.059
FATHMM_MKL	Uncertain	0.88	D
LIST_S2	Uncertain	0.89	.;.;D;D;D
M_CAP	Benign	0.022	T
MetaRNN	Uncertain	0.46	T;T;T;T;T
MetaSVM	Benign	-1.0	T
MutationAssessor	Uncertain	2.4	M;M;M;.;.
PrimateAI	Uncertain	0.52	T
PROVEAN	Uncertain	-2.8	D;D;D;D;D
REVEL	Benign	0.21
Sift	Uncertain	0.022	D;D;D;D;D
Sift4G	Uncertain	0.030	D;D;D;D;D
Polyphen		1.0	D;D;D;.;.
Vest4		0.39
MutPred		0.53		Gain of glycosylation at T170 (P = 0.0418);Gain of glycosylation at T170 (P = 0.0418);Gain of glycosylation at T170 (P = 0.0418);Gain of glycosylation at T170 (P = 0.0418);Gain of glycosylation at T170 (P = 0.0418);
MVP		0.26
MPC		0.45
ClinPred		0.94	D
GERP RS		3.1
Varity_R		0.64
gMVP		0.29

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: rs369071527; hg19: chr3-145917701;