chr17-67692697-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PM1PM2BP4_Strong
The NM_012417.4(PITPNC1):c.808A>G(p.Ser270Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000725 in 1,613,706 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012417.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PITPNC1 | NM_012417.4 | c.808A>G | p.Ser270Gly | missense_variant | 9/9 | ENST00000581322.6 | |
LOC101928045 | XR_002958126.2 | n.229-3324T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PITPNC1 | ENST00000581322.6 | c.808A>G | p.Ser270Gly | missense_variant | 9/9 | 1 | NM_012417.4 | ||
PITPNC1 | ENST00000580974.6 | c.*120A>G | 3_prime_UTR_variant | 10/10 | 1 | P1 | |||
PITPNC1 | ENST00000578527.1 | n.1065A>G | non_coding_transcript_exon_variant | 7/7 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 152074Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000124 AC: 31AN: 249254Hom.: 0 AF XY: 0.000192 AC XY: 26AN XY: 135224
GnomAD4 exome AF: 0.0000766 AC: 112AN: 1461632Hom.: 0 Cov.: 32 AF XY: 0.000109 AC XY: 79AN XY: 727112
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 152074Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74294
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 09, 2023 | The c.808A>G (p.S270G) alteration is located in exon 9 (coding exon 9) of the PITPNC1 gene. This alteration results from a A to G substitution at nucleotide position 808, causing the serine (S) at amino acid position 270 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