dbSNP rs376154: FAM230J:n.288-322G>T (chr22-18390289-C-A) – ACMG Classification: Likely_benign (-4 pts)

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong

The ENST00000833017.1(FAM230A):n.305-34688C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. 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: 𝑓 0.0 ( 0 hom., cov: 4)

Failed GnomAD Quality Control

Consequence

FAM230A
ENST00000833017.1 intron

Scores

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.0550

Publications

3 publications found

Variant links:

Genes affected

FAM230J (HGNC:52448): (family with sequence similarity 230 member J)

FAM230J links:

FAM230A (HGNC:45045): (family with sequence similarity 230 member A)

FAM230A links:

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new If you want to explore the variant's impact on the transcript ENST00000833017.1, check out the Mutation Effect Viewer. This is especially useful for frameshift variants or if you want to visualize the effect of exon loss / intron retention.

ACMG classification

Classification was made for transcript

Our verdict: Likely_benign. The variant received -4 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.96).

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000833017.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

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

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	FAM230J	ENST00000615974.1	TSL:5	n.288-322G>T		intron	N/A
	FAM230A	ENST00000833017.1		n.305-34688C>A		intron	N/A

Frequencies

GnomAD3 genomes

AF:

0.00

AC:

AN:

57090

Hom.:

Cov.:

Gnomad AFR

AF:

0.00

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.00

Gnomad ASJ

AF:

0.00

Gnomad EAS

AF:

0.00

Gnomad SAS

AF:

0.00

Gnomad FIN

AF:

0.00

Gnomad MID

AF:

0.00

Gnomad NFE

AF:

0.00

Gnomad OTH

AF:

0.00

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome

Data not reliable, filtered out with message: AC0;AS_VQSR

AF:

0.00

AC:

AN:

57090

Hom.:

Cov.:

AF XY:

0.00

AC XY:

AN XY:

26964

African (AFR)

AF:

0.00

AC:

AN:

16136

American (AMR)

AF:

0.00

AC:

AN:

5680

Ashkenazi Jewish (ASJ)

AF:

0.00

AC:

AN:

1412

East Asian (EAS)

AF:

0.00

AC:

AN:

2330

South Asian (SAS)

AF:

0.00

AC:

AN:

1446

European-Finnish (FIN)

AF:

0.00

AC:

AN:

3194

Middle Eastern (MID)

AF:

0.00

AC:

AN:

European-Non Finnish (NFE)

AF:

0.00

AC:

AN:

25748

Other (OTH)

AF:

0.00

AC:

AN:

738

Alfa

AF:

0.00

Hom.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.96

CADD

Benign

0.50

(source)

DANN

Benign

0.84

PhyloP100

0.055

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

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