rs11564245
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The NM_173600.2(MUC19):c.2407G>C(p.Asp803His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.117 in 1,283,110 control chromosomes in the GnomAD database, including 10,100 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_173600.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MUC19 | NM_173600.2 | c.2407G>C | p.Asp803His | missense_variant | 21/172 | ||
LOC105369736 | XR_944868.3 | n.75-9241C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MUC19 | ENST00000454784.10 | c.2407G>C | p.Asp803His | missense_variant | 21/173 | 5 | P1 | ||
ENST00000552757.1 | n.26-9241C>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0951 AC: 14460AN: 152096Hom.: 1011 Cov.: 32
GnomAD3 exomes AF: 0.103 AC: 13604AN: 132220Hom.: 1001 AF XY: 0.0993 AC XY: 7064AN XY: 71132
GnomAD4 exome AF: 0.120 AC: 135563AN: 1130896Hom.: 9089 Cov.: 29 AF XY: 0.117 AC XY: 65036AN XY: 554198
GnomAD4 genome ? AF: 0.0950 AC: 14458AN: 152214Hom.: 1011 Cov.: 32 AF XY: 0.0977 AC XY: 7269AN XY: 74422
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at