Genetic Variant ENST00000407852.2:n.37G>T (chr6-54770619-G-T) – ACMG Classification: Likely_benign (-2 pts)

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong

The ENST00000407852.2(KRASP1):n.37G>T variant causes a non coding transcript exon change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000019 in 527,026 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 31)

Exomes 𝑓: 0.0000019 ( 0 hom. )

Consequence

KRASP1
ENST00000407852.2 non_coding_transcript_exon

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 7.21

Publications

3 publications found

Variant links:

Genes affected

KRASP1 (HGNC:6406): (KRAS proto-oncogene, GTPase pseudogene 1)

KRASP1 links:

ENSG00000299445 (HGNC:):

ENSG00000299445 links:

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ACMG classification

Classification was made for transcript

Our verdict: Likely_benign. The variant received -2 ACMG points.

PM2

Very rare variant in population databases, with high coverage;

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.5).

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000407852.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Gene	Transcript	Tags	HGVSc	Effect	Exon Rank
KRASP1	ENST00000407852.2	TSL:6	n.37G>T	non_coding_transcript_exon	Exon 1 of 1
ENSG00000299445	ENST00000763589.1		n.132+31118C>A	intron	N/A
ENSG00000299445	ENST00000763590.1		n.87+31118C>A	intron	N/A

Frequencies

GnomAD3 genomes

Cov.:

GnomAD4 exome

AF:

0.00000190

AC:

AN:

527026

Hom.:

Cov.:

AF XY:

0.00

AC XY:

AN XY:

288184

show subpopulations

⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.

African (AFR)

AF:

0.00

AC:

AN:

14512

American (AMR)

AF:

0.00

AC:

AN:

39318

Ashkenazi Jewish (ASJ)

AF:

0.00

AC:

AN:

17608

East Asian (EAS)

AF:

0.00

AC:

AN:

31882

South Asian (SAS)

AF:

0.00

AC:

AN:

65290

European-Finnish (FIN)

AF:

0.00

AC:

AN:

42946

Middle Eastern (MID)

AF:

0.00

AC:

AN:

3114

European-Non Finnish (NFE)

AF:

0.00000351

AC:

AN:

285218

Other (OTH)

AF:

0.00

AC:

AN:

27138

⚠️ The allele balance in gnomAD4 Exomes is highly skewed from 0.5 (p-value = 0), which strongly suggests a high chance of mosaicism in these individuals.

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.225

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

GnomAD4 genome

Cov.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.50

CADD

Benign

3.5

(source)

DANN

Benign

0.43

PhyloP100

7.2

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Variant Effect in Transcripts

RefSeq Transcripts

Ensembl Transcripts

Frequencies

ClinVar

Computational scores

Splicing

Publications

Other links and lift over