chr16-69367020-T-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_005652.5(TERF2):āc.1127A>Gā(p.Asp376Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000065 in 1,614,214 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_005652.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TERF2 | NM_005652.5 | c.1127A>G | p.Asp376Gly | missense_variant | 7/10 | ENST00000254942.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TERF2 | ENST00000254942.8 | c.1127A>G | p.Asp376Gly | missense_variant | 7/10 | 1 | NM_005652.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152202Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000716 AC: 18AN: 251330Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135822
GnomAD4 exome AF: 0.0000561 AC: 82AN: 1461894Hom.: 0 Cov.: 31 AF XY: 0.0000550 AC XY: 40AN XY: 727248
GnomAD4 genome AF: 0.000151 AC: 23AN: 152320Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74496
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 06, 2021 | The c.1001A>G (p.D334G) alteration is located in exon 7 (coding exon 7) of the TERF2 gene. This alteration results from a A to G substitution at nucleotide position 1001, causing the aspartic acid (D) at amino acid position 334 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