9-70044677-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_153267.5(MAMDC2):c.128C>T(p.Pro43Leu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_153267.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MAMDC2 | NM_153267.5 | c.128C>T | p.Pro43Leu | missense_variant | Exon 2 of 14 | ENST00000377182.5 | NP_694999.3 | |
MAMDC2 | NM_001347990.2 | c.128C>T | p.Pro43Leu | missense_variant | Exon 2 of 12 | NP_001334919.1 | ||
MAMDC2 | NR_125850.1 | n.745C>T | non_coding_transcript_exon_variant | Exon 2 of 14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MAMDC2 | ENST00000377182.5 | c.128C>T | p.Pro43Leu | missense_variant | Exon 2 of 14 | 1 | NM_153267.5 | ENSP00000366387.4 | ||
MAMDC2-AS1 | ENST00000628563.2 | n.199-10478G>A | intron_variant | Intron 2 of 2 | 5 | |||||
MAMDC2-AS1 | ENST00000629922.2 | n.300-10478G>A | intron_variant | Intron 3 of 3 | 5 | |||||
MAMDC2-AS1 | ENST00000630191.2 | n.396-10478G>A | intron_variant | Intron 4 of 4 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.128C>T (p.P43L) alteration is located in exon 2 (coding exon 2) of the MAMDC2 gene. This alteration results from a C to T substitution at nucleotide position 128, causing the proline (P) at amino acid position 43 to be replaced by a leucine (L). 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
Publications
No publications associated with this variant yet.