rs16976734

Variant names:

• chr15-56090097-A-C
• rs16976734
• NM_022841.7:c.*3248T>G

Your query was ambiguous. Multiple possible variants found:

• chr15-56090097-A-C
• chr15-56090097-A-G
• chr15-56090097-A-T

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_022841.7(RFX7):​c.*3248T>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: 32)
• Consequence: RFX7 NM_022841.7 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.75
• Publications: 14 publications found

Genes affected

RFX7 (HGNC:25777): (regulatory factor X7) RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009]

RFX7 Gene-Disease associations (from GenCC):

• intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities

  Inheritance: AD Classification: STRONG Submitted by: Labcorp Genetics (formerly Invitae)

ACMG classification

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=-0.7).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
RFX7	NM_022841.7	c.*3248T>G		3_prime_UTR_variant	Exon 10 of 10	ENST00000559447.8	NP_073752.6

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
RFX7	ENST00000559447.8	c.*3248T>G		3_prime_UTR_variant	Exon 10 of 10	5	NM_022841.7	ENSP00000453281.3
RFX7	ENST00000673997.1	c.*3248T>G		3_prime_UTR_variant	Exon 9 of 9			ENSP00000501278.1
RFX7	ENST00000674082.1	c.*3248T>G		3_prime_UTR_variant	Exon 12 of 12			ENSP00000501248.1
RFX7	ENST00000673948.1	c.3805-2588T>G		intron_variant	Intron 9 of 9			ENSP00000501249.1
RFX7	ENST00000559847.7	n.3805-2107T>G		intron_variant	Intron 7 of 8	1		ENSP00000453376.2

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.70
CADD	Benign	11
DANN	Benign	0.84
PhyloP100		2.7

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs16976734; hg19: chr15-56382295;