ENST00000562153.6:n.284+4548G>T

Variant names:

• chr16-72086146-A-.
• NM_017853.3:c.*491T>.

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The ENST00000562153.6(ENSG00000310525):​n.284+2841T>. variant causes a intron change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 N/A (N/A hom., cov:)
  • Exomes 𝑓: N/A (N/A hom.)
• Consequence: ENSG00000310525 ENST00000562153.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: No publications found

Genes affected

TXNL4B (HGNC:26041): (thioredoxin like 4B) Predicted to be involved in mRNA splicing, via spliceosome. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ENSG00000310525 (HGNC:):

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000562153.6. 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
	TXNL4B	NM_017853.3	MANE Select	c.*491T>.		3_prime_UTR	Exon 4 of 4	NP_060323.1	Q9NX01
	TXNL4B	NM_001142317.2		c.*491T>.		3_prime_UTR	Exon 4 of 4	NP_001135789.1	Q9NX01
	TXNL4B	NM_001142318.2		c.*491T>.		3_prime_UTR	Exon 4 of 4	NP_001135790.1	Q9NX01

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	TXNL4B	ENST00000268483.8	TSL:1 MANE Select	c.*491T>.		3_prime_UTR	Exon 4 of 4	ENSP00000268483.3	Q9NX01
	ENSG00000310525	ENST00000562153.6	TSL:4	n.284+2841T>.		intron	N/A	ENSP00000454635.2	H3BN11
	TXNL4B	ENST00000423037.5	TSL:4	c.*491T>.		3_prime_UTR	Exon 4 of 4	ENSP00000408130.1	Q9NX01

Frequencies

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

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

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

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.

Other links and lift over

hg19: chr16-72120045;