rs555771839

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong

The NM_052863.3(SCGB3A1):​c.259G>T​(p.Val87Leu) 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. 15/21 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. V87M) has been classified as Likely benign.

Frequency

Genomes: not found (cov: 33)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control

Consequence

SCGB3A1
NM_052863.3 missense

Scores

19

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -3.04
Variant links:
Genes affected
SCGB3A1 (HGNC:18384): (secretoglobin family 3A member 1) Predicted to be involved in positive regulation of myoblast fusion. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]

Genome browser will be placed here

ACMG classification

Classification made for transcript

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=0.030127078).

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
SCGB3A1NM_052863.3 linkc.259G>T p.Val87Leu missense_variant Exon 2 of 3 ENST00000292641.4 NP_443095.2 Q96QR1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
SCGB3A1ENST00000292641.4 linkc.259G>T p.Val87Leu missense_variant Exon 2 of 3 1 NM_052863.3 ENSP00000292641.3 Q96QR1
SCGB3A1ENST00000512120.1 linkn.532G>T non_coding_transcript_exon_variant Exon 1 of 2 2

Frequencies

GnomAD3 genomes
Cov.:
33
GnomAD4 exome
Data not reliable, filtered out with message: AC0
AF:
0.00
AC:
0
AN:
1449776
Hom.:
0
Cov.:
32
AF XY:
0.00
AC XY:
0
AN XY:
720172
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.00
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00
Gnomad4 OTH exome
AF:
0.00
GnomAD4 genome
Cov.:
33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
0.12
BayesDel_addAF
Benign
-0.41
T
BayesDel_noAF
Benign
-0.82
CADD
Benign
0.42
DANN
Benign
0.84
DEOGEN2
Benign
0.054
T
Eigen
Benign
-1.8
Eigen_PC
Benign
-1.9
FATHMM_MKL
Benign
0.0074
N
LIST_S2
Benign
0.26
T
M_CAP
Benign
0.0067
T
MetaRNN
Benign
0.030
T
MetaSVM
Benign
-0.95
T
MutationAssessor
Benign
1.1
L
PrimateAI
Benign
0.28
T
PROVEAN
Benign
-0.78
N
REVEL
Benign
0.018
Sift
Benign
0.58
T
Sift4G
Benign
0.57
T
Polyphen
0.0050
B
Vest4
0.22
MutPred
0.20
Loss of catalytic residue at V87 (P = 0.0053);
MVP
0.030
MPC
0.39
ClinPred
0.087
T
GERP RS
-6.3
Varity_R
0.055
gMVP
0.22

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.010
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: rs555771839; hg19: chr5-180017632; API