chr3-156548985-C-G

Variant summary

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

The NM_007107.5(SSR3):​c.279G>C​(p.Glu93Asp) 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. Synonymous variant affecting the same amino acid position (i.e. E93E) has been classified as Benign.

Frequency

Genomes: not found (cov: 33)

Consequence

SSR3
NM_007107.5 missense

Scores

2
6
11

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.885
Variant links:
Genes affected
SSR3 (HGNC:11325): (signal sequence receptor subunit 3) The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR is comprised of four membrane proteins/subunits: alpha, beta, gamma, and delta. The first two are glycosylated subunits and the latter two are non-glycosylated subunits. This gene encodes the gamma subunit, which is predicted to span the membrane four times. [provided by RefSeq, Aug 2010]

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ACMG classification

Classification made for transcript

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
SSR3NM_007107.5 linkc.279G>C p.Glu93Asp missense_variant Exon 3 of 5 ENST00000265044.7 NP_009038.1 Q9UNL2-1
SSR3NM_001308197.2 linkc.279G>C p.Glu93Asp missense_variant Exon 3 of 5 NP_001295126.1 Q9UNL2-2
SSR3NM_001308204.2 linkc.123G>C p.Glu41Asp missense_variant Exon 3 of 5 NP_001295133.1 Q9UNL2C9J365
SSR3NM_001308205.2 linkc.123G>C p.Glu41Asp missense_variant Exon 3 of 5 NP_001295134.1 Q9UNL2C9J365

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
SSR3ENST00000265044.7 linkc.279G>C p.Glu93Asp missense_variant Exon 3 of 5 1 NM_007107.5 ENSP00000265044.2 Q9UNL2-1

Frequencies

GnomAD3 genomes
Cov.:
33
GnomAD4 exome
Cov.:
36
GnomAD4 genome
Cov.:
33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Pathogenic
0.87
BayesDel_addAF
Uncertain
0.14
D
BayesDel_noAF
Uncertain
-0.040
CADD
Benign
21
DANN
Uncertain
0.99
DEOGEN2
Benign
0.21
T;.;T;T;T
Eigen
Benign
-0.15
Eigen_PC
Benign
-0.035
FATHMM_MKL
Uncertain
0.94
D
LIST_S2
Uncertain
0.94
D;D;D;.;D
M_CAP
Benign
0.0093
T
MetaRNN
Uncertain
0.54
D;D;D;D;D
MetaSVM
Benign
-0.85
T
MutationAssessor
Benign
1.7
L;L;.;.;.
PrimateAI
Pathogenic
0.91
D
PROVEAN
Benign
-1.4
N;N;N;N;N
REVEL
Benign
0.16
Sift
Benign
0.28
T;T;T;T;T
Sift4G
Benign
0.47
T;T;T;T;T
Polyphen
0.061
B;.;.;.;.
Vest4
0.65
MutPred
0.52
Gain of glycosylation at S97 (P = 0.0146);Gain of glycosylation at S97 (P = 0.0146);Gain of glycosylation at S97 (P = 0.0146);.;.;
MVP
0.75
MPC
0.31
ClinPred
0.61
D
GERP RS
3.6
RBP_binding_hub_radar
0.92
RBP_regulation_power_radar
2.6
Varity_R
0.17
gMVP
0.74

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.030
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

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs9296; hg19: chr3-156266774; API