4-70480821-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_152291.3(MUC7):āc.77A>Gā(p.Asp26Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,558 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_152291.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MUC7 | NM_152291.3 | c.77A>G | p.Asp26Gly | missense_variant | 3/3 | ENST00000304887.6 | NP_689504.2 | |
MUC7 | NM_001145006.2 | c.77A>G | p.Asp26Gly | missense_variant | 4/4 | NP_001138478.1 | ||
MUC7 | NM_001145007.2 | c.77A>G | p.Asp26Gly | missense_variant | 4/4 | NP_001138479.1 | ||
MUC7 | XM_047415723.1 | c.77A>G | p.Asp26Gly | missense_variant | 4/4 | XP_047271679.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MUC7 | ENST00000304887.6 | c.77A>G | p.Asp26Gly | missense_variant | 3/3 | 1 | NM_152291.3 | ENSP00000302021 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461558Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727046
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 09, 2024 | The c.77A>G (p.D26G) alteration is located in exon 4 (coding exon 2) of the MUC7 gene. This alteration results from a A to G substitution at nucleotide position 77, causing the aspartic acid (D) at amino acid position 26 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at