7-100958760-G-T

Variant summary

Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7

The NM_005960.2(MUC3A):​c.6981G>T​(p.Ser2327Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000375 in 800,274 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.0013 ( 0 hom., cov: 0)
Exomes 𝑓: 0.0000025 ( 0 hom. )

Consequence

MUC3A
NM_005960.2 synonymous

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -5.09
Variant links:
Genes affected
MUC3A (HGNC:7513): (mucin 3A, cell surface associated) The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -3 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-1.04).
BP7
Synonymous conserved (PhyloP=-5.09 with no splicing effect.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
MUC3ANM_005960.2 linkc.6981G>T p.Ser2327Ser synonymous_variant Exon 2 of 12 ENST00000379458.9 NP_005951.1 Q02505-1Q9H3Q6
LOC105375431XR_007060457.1 linkn.43+3513C>A intron_variant Intron 1 of 2

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
MUC3AENST00000379458.9 linkc.6981G>T p.Ser2327Ser synonymous_variant Exon 2 of 12 5 NM_005960.2 ENSP00000368771.5 Q02505-1
MUC3AENST00000483366.5 linkc.6981G>T p.Ser2327Ser synonymous_variant Exon 2 of 11 5 ENSP00000483541.1 Q02505-5
MUC3AENST00000414964.5 linkn.795G>T non_coding_transcript_exon_variant Exon 1 of 10 5 ENSP00000393306.2 A0A182DWF7

Frequencies

GnomAD3 genomes
AF:
0.00126
AC:
1
AN:
794
Hom.:
0
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.00676
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad NFE
AF:
0.00
Gnomad OTH
AF:
0.00
GnomAD3 exomes
AF:
0.0000121
AC:
2
AN:
164754
Hom.:
0
AF XY:
0.0000106
AC XY:
1
AN XY:
94286
show subpopulations
Gnomad AFR exome
AF:
0.000243
Gnomad AMR exome
AF:
0.00
Gnomad ASJ exome
AF:
0.00
Gnomad EAS exome
AF:
0.00
Gnomad SAS exome
AF:
0.00
Gnomad FIN exome
AF:
0.00
Gnomad NFE exome
AF:
0.00
Gnomad OTH exome
AF:
0.00
GnomAD4 exome
AF:
0.00000250
AC:
2
AN:
799480
Hom.:
0
Cov.:
102
AF XY:
0.00000260
AC XY:
1
AN XY:
384412
show subpopulations
Gnomad4 AFR exome
AF:
0.000124
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
AF:
0.00126
AC:
1
AN:
794
Hom.:
0
Cov.:
0
AF XY:
0.00
AC XY:
0
AN XY:
404
show subpopulations
Gnomad4 AFR
AF:
0.00676
Gnomad4 AMR
AF:
0.00
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.00
Gnomad4 OTH
AF:
0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-1.0
CADD
Benign
5.2
DANN
Benign
0.46

Splicing

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: rs111579886; hg19: chr7-100550889; API